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Spinocerebellar ataxia 15: A phenotypic review and expansion
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Abstract
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 reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.
Abstract
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 reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.
Keywords
Spinocerebellar ataxia type 15, Whole exome sequencing, Complex hereditary movement disorder, Autosomal dominant spinocerebellar ataxia
About this articleTitle
Spinocerebellar ataxia 15: A phenotypic review and expansion
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Review Article
Pages
86-91
DOI
10.1016/j.pjnns.2016.10.006
Bibliographic record
Neurol Neurochir Pol 2017;51(1):86-91.
Keywords
Spinocerebellar ataxia type 15
Whole exome sequencing
Complex hereditary movement disorder
Autosomal dominant spinocerebellar ataxia
Authors
Philip W. Tipton
Kimberly Guthrie
Audrey Strongosky
Ronald Reimer
Zbigniew K. Wszolek