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Dementia in Clinical Practice: A Neurological Perspective

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Abstract

This chapter examines the utility of various investigative techniques in the diagnosis of cognitive disorders including, in order of increasing invasiveness, neuroimaging, neurogenetics, neurophysiology, cerebrospinal fluid analysis, and tissue diagnosis.

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References

  • Adab N, Larner AJ. Adult-onset seizure disorder in 18q deletion syndrome. J Neurol. 2006;253:527–8.

    Article  PubMed  CAS  Google Scholar 

  • Aisen PS, Schneider LS, Sano M, et al. High-dose B vitamin supplementation and cognitive decline in Alzheimer disease: a randomized controlled trial. JAMA. 2008;300:1774–83.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Aji BM, Medley G, O’Driscoll K, Larner AJ, Alusi SH. Perry syndrome: a disorder to consider in the differential diagnosis of parkinsonism. J Neurol Sci. 2013a;330:117–8.

    Article  PubMed  CAS  Google Scholar 

  • Aji BM, Fratalia L, Alusi SH, Larner AJ. Perry syndrome: more common than previously thought and associated with early cognitive impairment. Abstract Book. Integration by Translation. XX World Congress on Parkinson’s Disease and Related Disorders, Geneva, Switzerland, 8–11 December; 2013b. p. 106–7 (abstract 393).

    Google Scholar 

  • Aji BM, Milburn-McNulty P, Larner AJ. Epilepsy: when family history holds the key to diagnosis. Prog Neurol Psychiatry. 2016;20(5):11–2.

    Article  Google Scholar 

  • Ali R, Larner AJ, Doran M. L-dopa responsive suspected dementia. Eur J Neurol. 2010;17(Suppl 3):371 (abstract P2054).

    Google Scholar 

  • Ali R, Barborie A, Larner AJ, White RP. Psychiatric presentation of sporadic Creutzfeldt-Jakob disease: a challenge to current diagnostic criteria. J Neuropsychiatry Clin Neurosci. 2013;25:335–8.

    Article  PubMed  Google Scholar 

  • Allison RS. The senile brain. A clinical study. London: Edward Arnold; 1962.

    Google Scholar 

  • Alzheimer Disease and Frontotemporal Dementia Mutation Database. 2017. http://www.molgen.ua.ac.be/Admutations. Accessed 10 Aug 2017.

  • Anonymous. Practice parameter for diagnosis and evaluation of dementia. (summary statement) Report of the Quality Standards Subcommitte of the American Academy of Neurology. Neurology. 1994;44:2203–6.

    Article  Google Scholar 

  • Ansell G, Rotblat J. Radioactive iodine as a diagnostic aid for intrathoracic goitre. Br J Radiol. 1948;21:552–8.

    Article  PubMed  CAS  Google Scholar 

  • Armstrong MJ, Litvan I, Lang AE, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology. 2013;80:496–503.

    Article  PubMed  PubMed Central  Google Scholar 

  • Barkhof F, Fox NC, Bastos-Leite AJ, Scheltens P. Neuroimaging in dementia. Berlin: Springer; 2011.

    Book  Google Scholar 

  • Blennow K, Hampel H, Weiner M, Zetterberg H. Cerebrospinal fluid and plasma biomarkers in Alzheimer disease. Nat Rev Neurol. 2010;6:131–44.

    Article  PubMed  CAS  Google Scholar 

  • Bonello M, Larner AJ, Marson AG. Profound amnesia after temporal lobectomy: an autoimmune process resembling patient H.M.? Case Rep Neurol. 2014;6:251–5.

    Article  PubMed  PubMed Central  Google Scholar 

  • Brickell KL, Steinbart EJ, Rumbaugh M, et al. Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease. Arch Neurol. 2006;63:1307–11.

    Article  PubMed  Google Scholar 

  • Brown J, Wiggins J, Dong H, Harvey R, Richardson F, Dawson K, Parker RA. The H-TYM. Evaluation of a short cognitive test to detect mild AD and amnestic MCI. Int J Geriatr Psychiatry. 2014;29:272–80.

    Article  PubMed  Google Scholar 

  • Bullock R, Qizilbash N. Memory clinics—a guide to implementation and evaluation. In: Qizilbash N, Schneider LS, Chui H et al. editors. Evidence-based dementia practice. Oxford: Blackwell; 2002. p. 828–43.

    Google Scholar 

  • Burton EJ, Barber R, Mukaetova-Ladinska EB, et al. Medial temporal lobe atrophy on MRI differentiates Alzheimer’s disease from dementia with Lewy bodies and vascular cognitive impairment: a prospective study with pathological verification of diagnosis. Brain. 2009;132:195–203.

    Article  PubMed  CAS  Google Scholar 

  • Chan D, Walters RJ, Sampson EL, Schott JM, Smith SJ, Rossor MN. EEG abnormalities in frontotemporal lobar degeneration. Neurology. 2004;62:1628–30.

    Article  PubMed  CAS  Google Scholar 

  • Charidimou A, Gang Q, Werring DJ. Sporadic cerebral amyloid angiopathy revisited: recent insights into pathophysiology and clinical spectrum. J Neurol Neurosurg Psychiatry. 2012;83:124–37.

    Article  PubMed  Google Scholar 

  • Charpentier P, Lavenu I, Defebvre L, Duhamel A, Lecouffe P, Pasquier F, Steinling M. Alzheimer’s disease and frontotemporal dementia are differentiated by discriminant analysis applied to (99m)Tc HmPAO SPECT data. J Neurol Neurosurg Psychiatry. 2000;69:661–3.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Megarbane A. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum Mutat. 2008;29:E194–204.

    Article  PubMed  Google Scholar 

  • Clarfield AM. The decreasing prevalence of reversible dementias: an updated meta-analysis. Arch Intern Med. 2003;163:2219–29.

    Article  PubMed  Google Scholar 

  • Clark CM, Schneider JA, Bedell BJ, et al. Use of florbetapir-PET for imaging beta-amyloid pathology. JAMA. 2011;305:275–83.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Colloby SJ, McParland S, O’Brien JT, Attems J. Neuropathological correlates of dopaminergic imaging in Alzheimer’s disease and Lewy body dementias. Brain. 2012;135:2798–808.

    Article  PubMed  Google Scholar 

  • Colombo R, Tavian D, Baker MC, Richardson AM, Snowden JS, Neary D, Mann DM, Pickering-Brown SM. Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Neurogenetics. 2009;10:313–8.

    Article  PubMed  CAS  Google Scholar 

  • Connon P, Larner AJ. Fragile X-associated tremor/ataxia syndrome: cognitive presentations. Br J Hosp Med. 2017;78:230–1.

    Article  CAS  Google Scholar 

  • Cronin-Stubbs D, Beckett LA, Scherr PA, et al. Weight loss in people with Alzheimer’s disease: a prospective population based analysis. BMJ. 1997;314:178–9.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Cruts M, van Duijn CM, Backhovens H, et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet. 1998;7:43–51.

    Article  PubMed  CAS  Google Scholar 

  • Davies M, Larner AJ. Clinical misdiagnosis of Alzheimer’s disease: getting it wrong again. Eur J Neurol. 2009;16(Suppl 3):351 (abstract 2036).

    Google Scholar 

  • Davies RR, Kipps CM, Mitchell J, Kril JJ, Halliday GM, Hodges JR. Progression in frontotemporal dementia: identifying a benign behavioral variant by magnetic resonance imaging. Arch Neurol. 2006;63:1627–31.

    Article  PubMed  Google Scholar 

  • Davies RR, Doran M, Larner AJ. Early-onset dementia. Prog Neurol Psychiatry. 2011;15(4):12–6.

    Article  Google Scholar 

  • Dawe G. The diagnostic yield of CT brain scans in patients referred to memory loss clinic. Dement Geriatr Cogn Disord. 2012;34(Suppl1):126.

    Google Scholar 

  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucelotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Doran M. Diagnosis of presenile dementia. Br J Hosp Med. 1997;58:105–10.

    PubMed  CAS  Google Scholar 

  • Doran M, Larner AJ. Monozygotic twins discordant for primary progressive aphasia. Alzheimer Dis Assoc Disord. 2004a;18:48–9.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, Larner AJ. Prominent behavioural and psychiatric symptoms in early-onset Alzheimer’s disease in a sib pair with the presenilin-1 gene R269G mutation. Eur Arch Psychiatry Clin Neurosci. 2004b;254:187–9.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, Larner AJ. EEG findings in dementia with Lewy bodies causing diagnostic confusion with sporadic Creutzfeldt-Jakob disease. Eur J Neurol. 2004c;11:838–41.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, Larner AJ. Familial Alzheimer’s disease due to presenilin-1 Y115C mutation. J Neurol. 2006;253(Suppl 2):II91 (Poster P359).

    Google Scholar 

  • Doran M, Larner AJ. Monogenic Mendelian causes of dementia: ten-year survey of a dementia clinic. Eur J Neurol. 2009;16(Suppl3):291 (abstract P1731).

    Google Scholar 

  • Doran M, du Plessis DG, Enevoldson TP, Fletcher NA, Ghadiali E, Larner AJ. Pathological heterogeneity of clinically diagnosed corticobasal degeneration. J Neurol Sci. 2003;216:127–34.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, Vinjamuri S, Collins J, Parker D, Larner AJ. SPECT perfusion imaging in the differential diagnosis of dementia: a retrospective regional audit. Int J Clin Pract. 2005a;59:496–500.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, Enevoldson TP, Ghadiali EJ, Larner AJ. Mills syndrome with dementia: broadening the phenotype of FTD/MND. J Neurol. 2005b;252:846–7.

    Article  PubMed  CAS  Google Scholar 

  • Doran M, du Plessis DG, Ghadiali EJ, Mann DMA, Pickering-Brown S, Larner AJ. Familial early-onset dementia with tau intron 10 +16 mutation with clinical features similar to those of Alzheimer disease. Arch Neurol. 2007;64:1535–9.

    Article  PubMed  Google Scholar 

  • Dougall NJ, Bruggink S, Ebmeier KP. The clinical use of 99mTc-HMPAO-SPECT in Alzheimer’s disease. A systematic review. In: Ebmeier KP, editor. SPECT in dementia. Basel: Karger; 2003. p. 4–37.

    Chapter  Google Scholar 

  • Du Plessis DG, Larner AJ. Phenotypic similarities causing clinical misdiagnosis of pathologically-confirmed sporadic Creutzfeldt-Jakob disease as dementia with Lewy bodies. Clin Neurol Neurosurg. 2008;110:194–7.

    Article  PubMed  Google Scholar 

  • Dubois B, Feldman HH, Jacova C, et al. Research criteria for the diagnosis of Alzheimer’s disease: revising the NINCDS-ADRDA criteria. Lancet Neurol. 2007;6:734–46.

    Article  PubMed  Google Scholar 

  • Dubois B, Feldman HH, Jacova C et al. Advancing research diagnostic criteria for Alzheimer’s disease: the IWG-2 criteria. Lancet Neurol. 2014;13:614–29. [Erratum Lancet Neurol. 2014;13:757].

    Google Scholar 

  • Farrer MJ, Hulihan MM, Kachergus JM, et al. DCTN1 mutations in Perry syndrome. Nat Genet. 2009;41:163–5.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Filippi M, Agosta F, Barkhof F, et al. EFNS task force: the use of neuroimaging in the diagnosis of dementia. Eur J Neurol. 2012;19:e131–40.

    Article  PubMed  CAS  Google Scholar 

  • Filley CM. The behavioral neurology of white matter. 2nd ed. Oxford: Oxford University Press; 2012.

    Google Scholar 

  • Frisoni GB, Fox NC, Jack CRJ, Scheltens P, Thompson PM. The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol. 2010;6:67–77.

    Article  PubMed  PubMed Central  Google Scholar 

  • Genova L. Still Alice. London: Simon and Schuster; 2007.

    Google Scholar 

  • Ghadiri-Sani M, Larner AJ, Menon RK. Sensory neuronopathy as a possible paraneoplastic neurological syndrome linked with pancreatic cancer. Br J Hosp Med. 2016;77:48–9.

    Article  CAS  Google Scholar 

  • Giraldo M, Lopera F, Siniard AL, et al. Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer’s disease. Neurobiol Aging. 2013;34:2077.

    Article  PubMed  CAS  Google Scholar 

  • Goldman JS, Farmer JM, Wood EM, et al. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology. 2005;65:1817–9.

    Article  PubMed  CAS  Google Scholar 

  • Goldman JS, Hahn SE, Catania JW, et al. Genetic counselling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011a;13:597–605.

    Article  PubMed  PubMed Central  Google Scholar 

  • Goldman JS, Rademakers R, Huey ED, Boxer AL, Mayeux R, Miller BL, Boeve BF. An algorithm for genetic testing of frontotemporal lobar degeneration. Neurology. 2011b;76:475–83.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Golomb J, Wisoff J, Miller DC, Boksay I, Kluger A, Weiner H, Salton J, Graves W. Alzheimer’s disease comorbidity in normal pressure hydrocephalus: prevalence and shunt response. J Neurol Neurosurg Psychiatry. 2000;68:778–81.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Gorelick PB, Scuteri A, Black SE, et al. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke. 2011;42:2672–713.

    Article  PubMed  PubMed Central  Google Scholar 

  • Guerreiro RJ, Lohmann E, Bras JM, et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013;70:78–84.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hall B, Mak E, Cervenka S, Aigbirhio FI, Rowe JB, O’Brien JT. In vivo tau PET imaging in dementia: pathophysiology, radiotracer quantification, and a systematic review of clinical findings. Ageing Res Rev. 2017;36:50–63.

    Article  PubMed  CAS  Google Scholar 

  • Hamilton R, Patel S, Lee EB, et al. Lack of shunt response in suspected idiopathic normal pressure hydrocephalus with Alzheimer disease pathology. Ann Neurol. 2010;68:535–40.

    Article  PubMed  PubMed Central  Google Scholar 

  • Hancock P, Larner AJ. Late-onset autosomal dominant Alzheimer’s disease. Eur J Neurol. 2007;14(Suppl1):187–8. (abstract P2102).

    Google Scholar 

  • Hancock P, Larner AJ. A case of frontotemporal lobar degeneration with MND. Prog Neurol Psychiatry. 2008;12(3):15,18.

    Google Scholar 

  • Hejl A, Høgh P, Waldemar G. Potentially reversible conditions in 1000 consecutive memory clinic patients. J Neurol Neurosurg Psychiatry. 2002;73:390–4.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Hill AF, Butterworth RJ, Joiner S, et al. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999;353:183–9.

    Article  PubMed  CAS  Google Scholar 

  • Hodges JR, Davies R, Xuereb J, Kril J, Halliday G. Survival in frontotemporal dementia. Neurology. 2003;61:349–54.

    Article  PubMed  CAS  Google Scholar 

  • Hort J, O’Brien JT, Gainotti G, et al. EFNS guidelines for the diagnosis and management of Alzheimer’s disease. Eur J Neurol. 2010a;17:1236–48.

    Article  PubMed  CAS  Google Scholar 

  • Hort J, Bartos A, Pirttila T, Scheltens P. Use of cerebrospinal fluid biomarkers in diagnosis of dementia across Europe. Eur J Neurol. 2010b;17:90–6.

    Article  PubMed  CAS  Google Scholar 

  • Ibrahim I, Young CA, Larner AJ. Fornix damage from solitary subependymal giant cell astrocytoma causing postoperative amnesic syndrome. Br J Hosp Med. 2009;70:478–9.

    Article  CAS  Google Scholar 

  • Isaacs AM, Johannsen P, Holm I, Nielsen JE, FReJA Consortium. Frontotemporal dementia caused by CHMP2B mutations. Curr Alzheimer Res. 2011;8:246–51.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Jagust W, D’Esposito M, editors. Imaging the aging brain. Oxford: Oxford University Press; 2009.

    Google Scholar 

  • Janssen JC, Godbolt AK, Ioannidis P, Thompson EJ, Rossor MN. The prevalence of oligoclonal bands in the CSF of patients with primary neurodegenerative dementia. J Neurol. 2004;251:184–8.

    Article  PubMed  CAS  Google Scholar 

  • Jayaratnam S, Khoo AK, Basic D. Rapidly progressive Alzheimer’s disease and elevated 14-3-3 proteins in cerebrospinal fluid. Age Ageing. 2008;37:467–9.

    Article  PubMed  Google Scholar 

  • Jelic V, Kowlaski J. Evidence-based evaluation of diagnostic accuracy of resting EEG in dementia and mild cognitive impairment. Clin EEG Neurosci. 2009;40:129–42.

    Article  PubMed  Google Scholar 

  • Jesse S, Brettschneider J, Sussmuth SD, et al. Summary of cerebrospinal fluid routine parameters in neurodegenerative diseases. J Neurol. 2011;258:1034–41.

    Article  PubMed  Google Scholar 

  • Jimenez-Escrig A, Gomez-Tortosa E, Baron M, et al. A multigenerational pedigree of late-onset Alzheimer’s disease implies new genetic causes. Brain. 2005;128:1707–15.

    Article  PubMed  Google Scholar 

  • Kantarci K. 1H magnetic resonance spectroscopy in dementia. Br J Radiol. 2007;80(SpecNo 2):S146–52.

    Article  PubMed  CAS  Google Scholar 

  • Klünemann HH, Ridha BH, Magy L, et al. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. 2005;64:1502–7.

    Article  PubMed  CAS  Google Scholar 

  • Klunk WE, Engler H, Nordberg A, et al. Imaging brain amyloid in Alzheimer’s disease with Pittsburgh compound-B. Ann Neurol. 2004;55:306–19.

    Article  PubMed  CAS  Google Scholar 

  • Knopman DS, DeKosky ST, Cummings JL, et al. Practice parameter: diagnosis of dementia (an evidence-based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2001;56:1143–53.

    Article  PubMed  CAS  Google Scholar 

  • Landau SM, Harvey D, Madison CM, et al. Comparing predictors of conversion and decline in mild cognitive impairment. Neurology. 2010;75:230–8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ. Missed diagnosis of vitamin B12 deficiency presenting with paraesthetic symptoms. Int J Clin Pract. 2002;56:377–8.

    PubMed  CAS  Google Scholar 

  • Larner AJ. Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene. J Neurol. 2003;250:1253–4.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Getting it wrong: the clinical misdiagnosis of Alzheimer’s disease. Int J Clin Pract. 2004a;58:1092–4.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Visual failure caused by vitamin B12 deficiency optic neuropathy. Int J Clin Pract. 2004b;58:977–8.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Genotype-phenotype correlations in early-onset Alzheimer disease with presenilin 1 gene mutations. Arch Neurol. 2004c;61:801.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Proton magnetic resonance spectroscopy (1H-MRS): audit of pragmatic use in the Cognitive Function Clinic. J Neurol. 2006;253(Suppl 2):II92. (abstract P363).

    Google Scholar 

  • Larner AJ. Down syndrome in the neurology clinic: Too much? Too little? Too late? Down Syndr Res Pract. 2007a;12:69–71.

    Article  Google Scholar 

  • Larner AJ. Integrated care pathways in dementia: a challenge to National Institute for Health and Clinical Excellence/Social Care Institute for Excellence guidance. J Integrated Care Pathways. 2007b;11:95–9.

    Article  Google Scholar 

  • Larner AJ. Neuropsychological neurology: the neurocognitive impairments of neurological disorders. Cambridge: Cambridge University Press; 2008a.

    Book  Google Scholar 

  • Larner AJ. Proton magnetic resonance spectroscopy (1H-MRS): pragmatic study of Alzheimer’s disease and frontotemporal dementia. Eur J Neurol. 2008b;15(Suppl 3):283. (abstract P2287).

    Google Scholar 

  • Larner AJ. Monogenic Mendelian disorders in general neurological practice. Int J Clin Pract. 2008c;62:744–6.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Mutation negative early-onset familial Alzheimer disease: consider screening for tau gene mutations. Alzheimer Dis Assoc Disord. 2008d;22:194–5.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Asymptomatic X-linked adrenoleukodystrophy with the R152C mutation: neuropsychological and neuroimaging findings. Eur J Neurol. 2008e;15(Suppl 3):293. (abstract P2323).

    Google Scholar 

  • Larner AJ. Delusion of pregnancy in frontotemporal lobar degeneration with motor neurone disease (FTLD/MND). Behav Neurol. 2008f;19:199–200.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ. A 50-year old man with deteriorating cognitive function and impaired movement. PLoS Med. 2009a;6(1):e1000019.

    Article  Google Scholar 

  • Larner AJ. Deletion of 18q. In: Lang F, editor. Encyclopedia of molecular mechanisms of disease (3 volumes). Berlin: Springer; 2009b. p. 503–4.

    Google Scholar 

  • Larner AJ. Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. J Neurol Sci. 2009c;287:253–6.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. What’s new in dementia? Clin Med. 2010;10:391–4.

    Article  CAS  Google Scholar 

  • Larner AJ. Audit of practice versus guidelines: neuro-imaging in a dementia clinic. Morecambe Bay Med J. 2011a;6:110–2.

    Google Scholar 

  • Larner AJ. Presenilin 1 mutation Alzheimer’s disease: a genetic epilepsy syndrome? Epilepsy Behav. 2011b;21:20–2.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Senile myoclonic epilepsy in Down syndrome. Seizure. 2011c;20:512.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Camptodactyly: a 10-year series. Eur J Dermatol. 2011d;21:771–5.

    PubMed  Google Scholar 

  • Larner AJ. FTLD: a challenging diagnosis. Prog Neurol Psychiatry. 2011e;15(1):31.

    Google Scholar 

  • Larner AJ. FTDP-17: two-year follow-up of motor and cognitive features following autologous stem cell transplantation. J Neuropsychiatry Clin Neurosci. 2012;24:E1–2.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation. J Neurol Sci. 2012b;316:189–90.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Ascertaining familial Alzheimer’s disease gene mutations. Prog Neurol Psychiatry. 2012c;16(6):6.

    Google Scholar 

  • Larner AJ. Neuropsychological neurology: the neurocognitive impairments of neurological disorders. 2nd ed. Cambridge: Cambridge University Press; 2013a.

    Google Scholar 

  • Larner AJ. Cerebral mass lesions presenting in a cognitive disorders clinic. Br J Hosp Med. 2013b;74:694–5.

    Article  CAS  Google Scholar 

  • Larner AJ. Presenilin-1 mutations in Alzheimer’s disease: an update on genotype-phenotype relationships. J Alzheimers Dis. 2013c;37:653–9.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ. Delusion of pregnancy: a case revisited. Behav Neurol. 2013d;27:293–4.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ. Hard-TYM: a pragmatic study. Int J Geriatr Psychiatry. 2015;30:330–1.

    Article  CAS  PubMed  Google Scholar 

  • Larner AJ. Transient global amnesia. From patient encounter to clinical neuroscience. London: Springer; 2017a.

    Book  Google Scholar 

  • Larner AJ. FRONTIER Executive Screen (FES). Poster P0034, Association of British Neurologists Annual Meeting, Liverpool, 3–5 May, 2017b.

    Google Scholar 

  • Larner AJ, Doran M. Prion disease at a regional neuroscience centre: retrospective audit. J Neurol Neurosurg Psychiatry. 2004;75:1789–90.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer’s disease associated with mutations of the presenilin-1 gene. J Neurol. 2006a;253:139–58.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Doran M. Reply to Dr Raux et al.: molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update (J Med Genet 2005;42:793-5). J Med Genet. 2006b;43:e44.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ, Doran M. Clinical heterogeneity associated with tau gene mutations. Eur Neurol Rev. 2009a;3(2):31–2.

    Article  Google Scholar 

  • Larner AJ, Doran M. Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer’s disease: an update. J Alzheimers Dis. 2009b;17:259–65.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Doran M. Inter- and intrafamilial clinical heterogeneity in FTDP-17 associated with MAPT 10+16 mutation. J Neurol Neurosurg Psychiatry. 2009c;80:e1.

    Article  Google Scholar 

  • Larner AJ, du Plessis DG. Early-onset Alzheimer’s disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study. Eur J Neurol. 2003;10:319–23.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Gardner-Thorpe C. Mills syndrome with dementia. Eur Neurol J. 2012;4(2):29–32.

    Google Scholar 

  • Larner AJ, Rakshi JS. Vitamin B12 deficiency and dementia. Eur J Neurol. 2001;8:730.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Zeman AZ, Allen CM, Antoun NM. MRI appearances in subacute combined degeneration of the spinal cord due to vitamin B12 deficiency. J Neurol Neurosurg Psychiatry. 1997;62:99–100.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Larner AJ, Janssen JC, Cipolotti L, Rossor MN. Cognitive profile in dementia associated with vitamin B12 deficiency due to pernicious anaemia. J Neurol. 1999;246:317–9.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Smith ETS, Doran M. Does MRI/MRS permit ante mortem diagnosis of progressive subcortical gliosis of Neumann? J Neurol Neurosurg Psychiatry. 2003;74:404 (abstract 29). (Full paper at [www.acnr.co.uk/mar_apr_2009/MAR09_A_Larner.pdf]).

  • Larner AJ, Ray PS, Doran M. The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer’s disease. J Neurol Sci. 2007;252:173–6.

    Article  PubMed  CAS  Google Scholar 

  • Larner AJ, Coles AJ, Scolding NJ, Barker RA. A-Z of neurological practice. A guide to clinical neurology. 2nd ed. London: Springer; 2011.

    Google Scholar 

  • Larner MJ, Larner AJ. Normal pressure hydrocephalus: false positives. Pract Neurol. 2006;6:264.

    Article  Google Scholar 

  • Le Ber I, Camuzat A, Guillot-Noel L, et al. C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis. 2013;34:485–99.

    Google Scholar 

  • Liyanagedera S, Bracewell RM, Larner AJ. Diagnosing dementia with Lewy bodies: new diagnostic criteria. J R Coll Phys Edinb. 2018;48:44–5.

    Article  CAS  Google Scholar 

  • Lladó A, Fortea J, Ojea T, Bosch B, Sanz P, Valls-Solé J, Clarimon J, Molinuevo JL, Sánchez-Valle R. A novel PSEN1 mutation (K239N) associated with Alzheimer’s disease with wide range age of onset and slow progression. Eur J Neurol. 2010;17:994–6.

    Article  PubMed  Google Scholar 

  • Lobotesis K, Fenwick DJ, Phipps A, et al. Occipital hypoperfusion on SPECT in dementia with Lewy bodies but not AD. Neurology. 2001;56:643–9.

    Article  PubMed  CAS  Google Scholar 

  • Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002;59:1077–9.

    Article  PubMed  Google Scholar 

  • Magdalinou NK, Ling H, Shand Smith JD, et al. Normal pressure hydrocephalus or progressive supranuclear palsy? A clinicopathological case series. J Neurol. 2013;260:1009–13.

    Article  PubMed  Google Scholar 

  • Malm J, Eklund A. Idiopathic normal pressure hydrocephalus. Pract Neurol. 2006;6:14–27.

    Article  Google Scholar 

  • Mann DM. Calcification of the basal ganglia in Down’s syndrome and Alzheimer’s disease. Acta Neuropathol. 1988;76:595–8.

    Article  PubMed  CAS  Google Scholar 

  • Marks M. Routine test batteries may not be cost effective. BMJ. 2011;343:d6330.

    Article  PubMed  Google Scholar 

  • Marmarou A, Bergsneider M, Relkin N, Klinge P, Black PM. Development of guidelines for idiopathic normal-pressure hydrocephalus: introduction. Neurosurgery. 2005;57(3Suppl):S1–3.

    PubMed  Google Scholar 

  • McCormick LJ, Larner AJ. “Could you repeat that?”: not always a hearing problem! Br J Hosp Med. 2018;79. (in press)

    Google Scholar 

  • McKeith IG, Boeve BF, Dickson DW, et al. Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium. Neurology. 2017;89:88–100.

    Article  PubMed  PubMed Central  Google Scholar 

  • McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimers Dement. 2011;7:263–9.

    Article  PubMed  PubMed Central  Google Scholar 

  • McNeil R, Sare GM, Manoharan M, et al. Accuracy of single-photon emission computed tomography in differentiating frontotemporal dementia from Alzheimer’s disease. J Neurol Neurosurg Psychiatry. 2007;78:350–5.

    Article  Google Scholar 

  • Menon R, Barborie A, Jaros E, Mann DMA, Ray PS, Larner AJ. What’s in a name? Neuronal intermediate filament inclusion disease (NIFID), frontotemporal lobar degeneration-intermediate filament (FTLD-IF) or frontotemporal lobar degeneration-fused in sarcoma (FTLD-FUS)? J Neurol Neurosurg Psychiatry. 2011;82:1412–4.

    Article  PubMed  CAS  Google Scholar 

  • Milburn-McNulty P, Larner AJ. Transient global amnesia and brain tumour: chance concurrence or aetiological association? Case report and systematic literature review. Case Rep Neurol. 2015;7:18–25.

    Article  PubMed  PubMed Central  Google Scholar 

  • Milburn-McNulty P, Larner AJ. Episodic loss of consciousness: when targeted genetic testing contributes to diagnosis. Prog Neurol Psychiatry. 2018;22. (in press)

    Google Scholar 

  • Mishima T, Fujioka S, Tomiyama H, et al. Establishing diagnostic criteria for Perry syndrome. J Neurol Neurosurg Psychiatry. 2018;89:482–7.

    Article  PubMed  Google Scholar 

  • Morris Z, Whiteley WN, Longstreth WT, et al. Incidental findings on brain magnetic resonance imaging: systematic review and meta-analysis. BMJ. 2009;339:547–50.

    Google Scholar 

  • Murray K, Ritchie DL, Bruce M, Young CA, Doran M, Ironside JW, Will RG. Sporadic Creutzfeldt-Jakob disease in two adolescents. J Neurol Neurosurg Psychiatry. 2008;79:14–8.

    Article  PubMed  CAS  Google Scholar 

  • National Institute for Health and Clinical Excellence/Social Care Institute for Excellence. Dementia: supporting people with dementia and their carers in health and social care. NICE Clinical Guidance 42. London: National Institute for Health and Clinical Excellence; 2006. www.nice.org.uk/cG042.

  • Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546–54.

    Article  PubMed  CAS  Google Scholar 

  • Neumann MA, Cohn R. Progressive subcortical gliosis, a rare form of presenile dementia. Brain. 1967;90:405–18.

    Article  PubMed  CAS  Google Scholar 

  • Nicholl DJ, Greenstone MA, Clarke CE, et al. An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol. 2003;54:682–6.

    Article  PubMed  CAS  Google Scholar 

  • Nightingale S, Michael BD, Defres S, Benjamin LA, Solomon T. Test them all: an easily diagnosed and readily treatable cause of dementia with life-threatening consequences if missed. Pract Neurol. 2013;13:354–6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Nitrini R, Caixeta L. University educated man with childish behaviour. In: Gauthier S, Rosa-Neto P, editors. Case studies in dementia. Common and uncommon presentations. Cambridge: Cambridge University Press; 2011. p. 193–200.

    Chapter  Google Scholar 

  • Olde Rikkert MG, van der Vorm A, Burns A, et al. Consensus statement on genetic research in dementia. Am J Alzheimers Dis Other Demen. 2008;23:262–6.

    Article  PubMed  Google Scholar 

  • Ossenkoppele R, Jansen WJ, Rabinovici GD, et al. Prevalence of amyloid PET positivity in dementia syndromes: a meta-analysis. JAMA. 2015;313:1939–49.

    Article  PubMed  PubMed Central  Google Scholar 

  • Perry TL, Bratty PJ, Hansen S, Kennedy J, Urquhart N, Dolman CL. Hereditary mental depression and parkinsonism with taurine deficiency. Arch Neurol. 1975;32:108–13.

    Article  PubMed  CAS  Google Scholar 

  • Peters G, du Plessis DG, Humphrey PR. Cerebral Whipple’s disease with a stroke-like presentation and cerebrovascular pathology. J Neurol Neurosurg Psychiatry. 2002;73:336–9.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Pickering-Brown SM, Richardson AMT, Snowden JS, et al. Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. Brain. 2002;125:732–51.

    Article  PubMed  CAS  Google Scholar 

  • Poblete-Gutierrez P, Wiederholt T, Martinez-Mir A, et al. Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene. Physiol Res. 2006;55(Suppl2):S137–44.

    PubMed  CAS  Google Scholar 

  • Pulhorn H, Quigley DG, Bosma JJ, Kirollos R, du Plessis DG, Jenkinson MD. Impact of brain biopsy on the management of patients with nonneoplastic undiagnosed neurological disorders. Neurosurgery. 2008;62:833–7.

    Article  PubMed  Google Scholar 

  • Rademakers R, Dermaut B, Peeters K, et al. Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Hum Mutat. 2003;22:409–11.

    Article  PubMed  CAS  Google Scholar 

  • Randall A, Larner AJ. Late-onset cerebellar ataxia: don’t forget SCA 17. Eur J Neurol. 2016;23(Suppl1):696. (abstract P31191).

    Google Scholar 

  • Randall A, Ellis R, Hywel B, Davies RR, Alusi SH, Larner AJ. Rapid cognitive decline: not always Creutzfeldt-Jakob disease. J R Coll Physicians Edinb. 2015;45:209–12.

    Article  PubMed  CAS  Google Scholar 

  • Randall A, Huda S, Jacob A, Larner AJ. Autoimmune encephalitis (NMDAR antibody) in a patient receiving post-transplant immunosuppression. Pract Neurol. 2018; pii: practneurol-2018-001923 [Epub ahead of print].

    Google Scholar 

  • Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456–77.

    Article  PubMed  PubMed Central  Google Scholar 

  • Rawle MJ, Larner AJ. NARP syndrome: a 20-year follow-up. Case Rep Neurol. 2013;5:204–7.

    Article  PubMed  PubMed Central  Google Scholar 

  • Renton AE, Majounie E, Waite A, et al. A hexanucelotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Roeber S, Bäzner H, Hennerici M, Porstmann R, Kretschmar HA. Neurodegeneration with features of NIFID and ALS – extended clinical and neuropathological spectrum. Brain Pathol. 2006;16:228–34.

    Article  PubMed  PubMed Central  Google Scholar 

  • Rohrer JD, Guerriero R, Vandrovcova J, et al. The heritability and genetics of frontotemporal lobar degeneration. Neurology. 2009;73:1451–6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Román GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN international workshop. Neurology. 1993;43:250–60.

    Article  PubMed  Google Scholar 

  • Rose FC. History of British neurology. London: Imperial College Press; 2012.

    Google Scholar 

  • Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD. The diagnosis of young-onset dementia. Lancet Neurol. 2010;9:793–806.

    Article  PubMed  PubMed Central  Google Scholar 

  • Salmon E, Collette F, Garraux G. Differential diagnosis of dementia using functional neuroimaging. In: Jagust W, D’Esposito M, editors. Imaging the aging brain. New York: Oxford University Press; 2009. p. 245–60.

    Chapter  Google Scholar 

  • Sathasivam S, Doran M, Larner AJ. Frontotemporal lobar degeneration with motor neurone disease (FTLD/MND): presentations in psychiatric practice. Int J Psychiatry Clin Pract. 2008;12:138–41.

    Article  PubMed  CAS  Google Scholar 

  • Schott JM. HIV testing in dementia: test some, perhaps more, but not all. Pract Neurol. 2013;13:357–8.

    Article  PubMed  Google Scholar 

  • Schott JM, Williams DR, Butterworth RJ, Janssen JC, Larner AJ, Holton JL, Rossor MN. Shunt responsive progressive supranuclear palsy? Mov Disord. 2007;22:902–3.

    Article  PubMed  Google Scholar 

  • Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry. 2011;82:476–86.

    Article  PubMed  Google Scholar 

  • Sells RA, Larner AJ. Genetic causes of learning disability with epilepsy in the general neurology clinic. Eur J Neurol. 2011;18(Suppl2):184. (abstract P1315).

    Google Scholar 

  • Sheerin UM, Plagnol V, Bennett C, Dafalla B, Fryer A, Larner AJ, Revesz T, Homfray T, Wood NW. Exome sequencing reveals a novel DCTN1 mutation as the cause of Perry syndrome in a large British kindred—with expansion of the phenotype. 2018.

    Google Scholar 

  • Smithson E, Larner AJ. Glioblastoma multiforme masquerading as herpes simplex encephalitis. Br J Hosp Med. 2013;74:52–3.

    Article  CAS  Google Scholar 

  • Snowden JS, Thompson JC, Stopford CL, et al. The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships. Brain. 2011;134:2478–92.

    Article  PubMed  Google Scholar 

  • Sorbi S, Hort J, Erkinjuntti T, et al. EFNS/ENS guidelines on the diagnosis and management of disorders associated with dementia. Eur J Neurol. 2012;19:1159–79, e85–90.

    Article  PubMed  CAS  Google Scholar 

  • St John L, Larner AJ. Muscle wasting, bone pain and cognitive decline: a unifying diagnosis. Br J Hosp Med. 2015;76:602–3.

    Article  CAS  Google Scholar 

  • Steinhoff B, Zerr I, Glatting M, Schulz-Shaeffer W, Poser S, Kretschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jakob disease. Ann Neurol. 2004;56:702–8.

    Article  PubMed  Google Scholar 

  • Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S. Familial Alzheimer’s disease and inherited prion disease in the UK are poorly ascertained. J Neurol Neurosurg Psychiatry. 2011;82:1054–7.

    Article  PubMed  CAS  Google Scholar 

  • Takashima S, Becker LE. Basal ganglia calcification in Down’s syndrome. J Neurol Neurosurg Psychiatry. 1985;48:61–4.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Talbot PR, Lloyd JJ, Snowden JS, Neary D, Testa HJ. A clinical role for 99mTc-HMPAO SPECT in the investigation of dementia? J Neurol Neurosurg Psychiatry. 1998;64:306–13.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Tolboom N, Koedam EL, Schott JM, et al. Dementia mimicking Alzheimer’s disease owing to a tau mutation: CSF and PET findings. Alzheimer Dis Assoc Disord. 2010;24:303–7.

    PubMed  Google Scholar 

  • Utku U, Celik Y, Uyguner O, Yuksel-Apak M, Wollnik B. CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch 3 receptor. Eur J Neurol. 2002;9:23–8.

    Article  PubMed  CAS  Google Scholar 

  • van Straaten EC, Scheltens P, Knol DL, et al. Operational definitions for the NINDS-AIREN criteria for vascular dementia: an interobserver study. Stroke. 2003;34:1907–12.

    Article  PubMed  Google Scholar 

  • van Swieten JC, Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol. 2008;7:965–74.

    Article  PubMed  CAS  Google Scholar 

  • Waldemar G, Dubois B, Emre M, et al. Recommendations for the diagnosis and management of Alzheimer’s disease and other disorders associated with dementia. Eur J Neurol. 2007;14:e1–26.

    Article  PubMed  CAS  Google Scholar 

  • Warren JD, Schott JM, Fox NC, et al. Brain biopsy in dementia. Brain. 2005;128:2016–25.

    Article  PubMed  CAS  Google Scholar 

  • Watts GDJ, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004;36:377–81.

    Article  PubMed  CAS  Google Scholar 

  • Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)—a literature review. Parkinsonism Relat Disord. 2008;14:1–7.

    Article  PubMed  Google Scholar 

  • Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson’s syndrome and PSP-parkinsonism. Brain. 2005;128:1247–58.

    Article  PubMed  Google Scholar 

  • Williamson J, Larner AJ. Young-onset cognitive decline: not always variant Creutzfeldt-Jakob disease. Eur J Neurol. 2016;23(Suppl1):368. (abstract P21049).

    Google Scholar 

  • Williamson JC, Larner AJ. Behavioural variant frontotemporal dementia with novel heterozygous TREM2 frameshift mutation. 2018.; submitted.

    Google Scholar 

  • Williamson JC, Higgs J, Fletcher NA, Larner AJ. Novel pathogenic ITM2B mutation or incidental benign sequence variant? Next Generation Sequencing conundrum. Poster, 4th Congress of the European Academy of Neurology, Lisbon, 16–19 June 2018.

    Google Scholar 

  • Wilson M, Doran M, Enevoldson TP, Larner AJ. Cognitive profiles associated with intracranial dural arteriovenous fistula. Age Ageing. 2010;39:389–92.

    Article  PubMed  Google Scholar 

  • Wojtowicz A, Schott JM, Larner AJ. CSF biomarkers and the diagnosis of variant forms of Alzheimer’s disease. Prog Neurol Psychiatry. 2017;21(2):13–5.

    Article  Google Scholar 

  • Wong SH, Lecky BRF, Steiger MJ. Parkinsonism and impulse control disorder: presentation of a new progranulin gene mutation. Mov Disord. 2009a;24:618–9.

    Article  PubMed  Google Scholar 

  • Wong SH, Crooks D, Solomon T. How useful are brain biopsies in neurology patients? The Walton Centre experience. J Neurol Neurosurg Psychiatry. 2009b;80:452–3. (abstract 05).

    Google Scholar 

  • Wong SH, Saunders M, Larner AJ, Das K, Hart IK. An effective immunotherapy regimen for VGKC antibody-positive limbic encephalitis. J Neurol Neurosurg Psychiatry. 2010a;81:1167–9.

    Article  PubMed  CAS  Google Scholar 

  • Wong SH, Jenkinson MD, Faragher B, Thomas S, Crooks D, Solomon T. Brain biopsy in the management of neurology patients. Eur Neurol. 2010b;64:42–5.

    Article  PubMed  CAS  Google Scholar 

  • Woolf SH, Kamerow DB. Testing for uncommon conditions. The heroic search for positive test results. Arch Intern Med. 1990;150:2451–8.

    Article  PubMed  CAS  Google Scholar 

  • Youngs GR. La petite simulatrice: the story of the Chester porphyria. Med Historian. 1998;10:3–17.

    Google Scholar 

  • Zerr I, Kallenberg K, Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132:2659–68 [Erratum Brain. 2012;135:1335].

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Ziso B, Marsden D, Alusi S, Larner AJ. “Undifferentiated schizophrenia” revisited. J Neuropsychiatry Clin Neurosci. 2014;26:E62–3.

    Article  PubMed  Google Scholar 

  • Ziso B, Larner AJ, Alusi SH. Stuck in the middle: Huntington’s disease or not Huntington’s disease? J Neuropsychiatry Clin Neurosci. 2015a;27:e85–6.

    Article  PubMed  Google Scholar 

  • Ziso B, Williams TL, Walters RJL, Jaiser SR, Attems J, Wieshmann UC, Larner AJ, Jacob A. Facial onset sensory and motor neuronopathy: further evidence for a TDP-43 proteinopathy. Case Rep Neurol. 2015b;7:95–100.

    Article  PubMed  PubMed Central  Google Scholar 

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Larner, A.J. (2018). Investigation. In: Dementia in Clinical Practice: A Neurological Perspective. Springer, Cham. https://doi.org/10.1007/978-3-319-75259-4_7

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