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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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Vydáno v:Neurol Neurochir Pol
Hlavní autoři: Tipton, Philip W., Guthrie, Kimberly, Strongosky, Audrey, Reimer, Ronald, Wszolek, Zbigniew
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5378493/
https://ncbi.nlm.nih.gov/pubmed/27908616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pjnns.2016.10.006
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