Spinocerebellar ataxia 15: A phenotypic review and expansion

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewe...

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Veröffentlicht in:	Neurologia i neurochirurgia polska 2017-01, Vol.51 (1), p.86-91
Hauptverfasser:	Tipton, Philip W., Guthrie, Kimberly, Strongosky, Audrey, Reimer, Ronald, Wszolek, Zbigniew K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia Autosomal dominant spinocerebellar ataxia Complex hereditary movement disorder Female Humans Hydrocephalus Hydrocephalus - etiology Middle Aged Phenotype Spinocerebellar ataxia type 15 Spinocerebellar Ataxias - complications Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - physiopathology Whole exome sequencing
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