open access

Vol 51, No 1 (2017)
Review article
Submitted: 2016-09-19
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Spinocerebellar ataxia 15: A phenotypic review and expansion

Philip W. Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K. Wszolek
DOI: 10.1016/j.pjnns.2016.10.006
·
Neurol Neurochir Pol 2017;51(1):86-91.

open access

Vol 51, No 1 (2017)
Review article
Submitted: 2016-09-19

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.

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Keywords

Spinocerebellar ataxia type 15, Whole exome sequencing, Complex hereditary movement disorder, Autosomal dominant spinocerebellar ataxia

About this article
Title

Spinocerebellar ataxia 15: A phenotypic review and expansion

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 51, No 1 (2017)

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

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