Very Unusual Phenomenologies

  • Steven J. FruchtEmail author
  • Pichet Termsarasab


In this chapter, we review patients with very unusual movement disorders, including Wilson’s disease, neuronal brain iron degeneration, disorders on the borderland of epilepsy, unusual forms of parkinsonism, and benign paroxysmal disorders of infancy.


Wilson’s disease Neuronal brain iron degeneration Pantothenate kinase-associated degeneration Fahr’s disease Paroxysmal torticollis of infancy 

Supplementary material

Video 16.1

In this chapter, we present a group of patients with very unusual movement disorders. These patients are rare enough that even a movement disorder clinician may encounter them very infrequently in a career. Four categories of disorders are reviewed: metal and ion deposits; disorders on the borderland of epilepsy; unusual forms of parkinsonism; and benign paroxysmal disorders of infancy (MP4 3144930 kb)


  1. 1.
    Czlonkowska A, Litwin T, Chabik G. Wilson disease: neurologic features. Handb Clin Neurol. 2017;142:101–19. Scholar
  2. 2.
    Machado A, Chien HF, Deguti MM, Cancado E, Azevedo RS, Scaff M, et al. Neurological manifestations in Wilson’s disease: report of 119 cases. Mov Disord. 2006;21(12):2192–6. Scholar
  3. 3.
    Lorincz MT. Neurologic Wilson’s disease. Ann N Y Acad Sci. 2010;1184:173–87. Scholar
  4. 4.
    Chakor RT, Bharote H, Eklare N, Tamboli K. Unilateral rubral tremors in Wilson’s disease treated with dimercaprol. Ann Indian Acad Neurol. 2015;18(1):115–6. Scholar
  5. 5.
    Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34(4):295–507. Scholar
  6. 6.
    Termsarasab P, Tanenbaum DR, Frucht SJ. The phenomenology and natural history of idiopathic lower cranial dystonia. J Clin Mov Disord. 2014;1:3. Scholar
  7. 7.
    Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015;8(1):1–13. Scholar
  8. 8.
    Midena E, Frizziero L, Parrozzani R. Eye signs of Wilson disease: on and beyond the surface. In: Kerkar N, Roberts EA, editors. Clinical and translational perspectives on Wilson disease. London: Academic Press; 2019. p. 227–35.CrossRefGoogle Scholar
  9. 9.
    Irani SR, Michell AW, Lang B, Pettingill P, Waters P, Johnson MR, et al. Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis. Ann Neurol. 2011;69(5):892–900. Scholar
  10. 10.
    Ohta K, Obara K. Hemiparkinsonism with a discrete lacunar infarction in the contralateral substantia nigra. Mov Disord. 2006;21(1):124–5. Scholar
  11. 11.
    Cardoso F. Movement disorders in childhood. Parkinsonism Relat Disord. 2014;20(Suppl 1):S13–6. Scholar
  12. 12.
    Limphaibool N, Iwanowski P, Holstad MJV, Perkowska K. Parkinsonism in inherited metabolic disorders: key considerations and major features. Front Neurol. 2018;9:857. Scholar
  13. 13.
    Aberg L, Liewendahl K, Nikkinen P, Autti T, Rinne JO, Santavuori P. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology. 2000;54(5):1069–74. Scholar
  14. 14.
    Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders–clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567–84. Scholar
  15. 15.
    Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. Eur J Paediatr Neurol. 1997;1(2–3):67–71.CrossRefGoogle Scholar
  16. 16.
    Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058–65. Scholar
  17. 17.
    Hadjipanayis A, Efstathiou E, Neubauer D. Benign paroxysmal torticollis of infancy: an underdiagnosed condition. J Paediatr Child Health. 2015;51(7):674–8. Scholar
  18. 18.
    Renne B, Rueckriegel S, Ramachandran S, Radic J, Steinbok P, Singhal A. Bobble-head doll syndrome: report of 2 cases and a review of the literature, with video documentation of the clinical phenomenon. J Neurosurg Pediatr. 2018;21(3):236–46. Scholar
  19. 19.
    Agarwal N, Raheja A. Bobblehead-doll syndrome. N Engl J Med. 2019;380(5):e5. Scholar
  20. 20.
    Mallants C, Casteels K. Practical approach to childhood masturbation–a review. Eur J Pediatr. 2008;167(10):1111–7. Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Division of Movement DisordersNew York University Grossman School of Medicine, The Marlene and Paolo Fresco Institute for Parkinson’s and Movement Disorders, NYU Langone HealthNew YorkUSA
  2. 2.Division of Neurology, Faculty of MedicineRamathibodi Hospital, Mahidol UniversityBangkokThailand

Personalised recommendations