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Neuropsychiatric Manifestations of AFD

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Fabry Disease

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Abstract

There is growing evidence that both male and female AFD patients are at risk for developing neuropsychiatric symptoms. An expanding number of studies have demonstrated that these patients suffer from psychiatric disorders, especially from depression. Results of studies of the patients’ cognitive function are variable, ranging from severe impairment to normal functioning. Living with a chronic and painful disease, might be related to the difficult psychosocial adjustment of AFD patients. More attention should be given to the psychiatric and cognitive needs of the patients. We recommend that neuropsychiatric evaluation, and treatment should be included in the multidisciplinary care of AFD patients.

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References

  1. Wilcox WR, Oliveira JP, Hopkin RJ et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Mol Genet Metab 93(2):112–128

    Article  PubMed  CAS  Google Scholar 

  2. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R (2005) Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42(3):247–252

    Article  PubMed  CAS  Google Scholar 

  3. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38(11):750–760

    Article  PubMed  CAS  Google Scholar 

  4. Mehta A, Clarke JT, Giugliani R et al (2009) Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry outcome survey. J Med Genet 46(8):548–552

    Article  PubMed  CAS  Google Scholar 

  5. Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 34(3):236–242

    Article  PubMed  CAS  Google Scholar 

  6. Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23(3):307–312

    Article  PubMed  CAS  Google Scholar 

  7. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30(6):943–951

    Article  PubMed  CAS  Google Scholar 

  8. Crosbie TW, Packman W, Packman S (2009) Psychological aspects of patients with Fabry disease. J Inherit Metab Dis 32(6):745–753

    Google Scholar 

  9. Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT (1997) The vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord 8(4):252–257

    Article  PubMed  CAS  Google Scholar 

  10. Mohanraj R, Leach JP, Broome JC, Smith DF (2002) Neurological presentation of Fabry’s disease in a 52 year old man. J Neurol Neurosurg Psychiatry 73(3):340–342

    Article  PubMed  CAS  Google Scholar 

  11. Muller MJ (2006) Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis Ltd, Oxford

    Google Scholar 

  12. Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 31:177–206

    PubMed  CAS  Google Scholar 

  13. Grewal RP (1993) Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med 23(3):307–312

    Article  PubMed  CAS  Google Scholar 

  14. Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J (2004) Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 14(4):199–201

    Article  PubMed  Google Scholar 

  15. MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38(11):769–775

    Article  PubMed  CAS  Google Scholar 

  16. Sadek J, Shellhaas R, Camfield CS, Camfield PR, Burley J (2004) Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet 14(4):199–201

    Article  PubMed  Google Scholar 

  17. Liston EH, Levine MD, Philippart M (1973) Psychosis in Fabry disease and treatment with phenoxybenzamine. Arch Gen Psychiatry 29(3):402–403

    Article  PubMed  CAS  Google Scholar 

  18. Shen YC, Haw-Ming L, Lin CC, Chen CH (2007) Psychosis in a patient with Fabry’s disease and treatment with aripiprazole. Prog Neuropsychopharmacol Biol Psychiatry 31(3):779–780

    Article  PubMed  CAS  Google Scholar 

  19. MacDermot KD, Holmes A, Miners AH (2001) Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 24(Suppl 2):13–14, discussion 1–2

    Article  PubMed  Google Scholar 

  20. Moore DF, Kaneski CR, Askari H, Schiffmann R (2007) The cerebral vasculopathy of Fabry disease. J Neurol Sci 257(1–2):258–263

    Article  PubMed  Google Scholar 

  21. Low M, Nicholls K, Tubridy N et al (2007) Neurology of Fabry disease. Intern Med J 37(7):436–447

    Article  PubMed  CAS  Google Scholar 

  22. Albrecht J, Dellani PR, Muller MJ et al (2007) Voxel based analyses of diffusion tensor imaging in Fabry disease. J Neurol Neurosurg Psychiatry 78(9):964–969

    Article  PubMed  CAS  Google Scholar 

  23. Jardim L, Vedolin L, Schwartz IV et al (2004) CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 27(2):229–240

    Article  PubMed  CAS  Google Scholar 

  24. Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R (2003) White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62(3):231–240

    Article  PubMed  CAS  Google Scholar 

  25. Jokinen H, Kalska H, Mantyla R et al (2005) White matter hyperintensities as a predictor of neuropsychological deficits post-stroke. J Neurol Neurosurg Psychiatry 76(9):1229–1233

    Article  PubMed  CAS  Google Scholar 

  26. Tiehuis AM, Vincken KL, Mali WP et al (2008) Automated and visual scoring methods of cerebral white matter hyperintensities: relation with age and cognitive function. Cerebrovasc Dis 25(1–2):59–66

    Article  PubMed  CAS  Google Scholar 

  27. Herrmann LL, Le Masurier M, Ebmeier KP (2008) White matter hyperintensities in late life depression: a systematic review. J Neurol Neurosurg Psychiatry 79(6):619–624

    Article  PubMed  CAS  Google Scholar 

  28. Moore DF, Scott LT, Gladwin MT et al (2001) Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104(13):1506–1512

    Article  PubMed  CAS  Google Scholar 

  29. Shu L, Park JL, Byun J, Pennathur S, Kollmeyer J, Shayman JA (2009) Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol 20(9):1975–1985

    Article  PubMed  CAS  Google Scholar 

  30. Pinto VL, Brunini TM, Ferraz MR, Okinga A, Mendes-Ribeiro AC (2008) Depression and cardiovascular disease: role of nitric oxide. Cardiovasc Hemat Agents Med Chem 6(2):142–149

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Human Genetics and Metabolic Diseases, Hadassah Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel

    Perri Segal & Annick Raas-Rothschild

Authors
  1. Perri Segal
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  2. Annick Raas-Rothschild
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Correspondence to Perri Segal .

Editor information

Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Segal, P., Raas-Rothschild, A. (2010). Neuropsychiatric Manifestations of AFD. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_19

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_19

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  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-9032-4

  • Online ISBN: 978-90-481-9033-1

  • eBook Packages: MedicineMedicine (R0)

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