TY - JOUR
T1 - Spinocerebellar ataxia 15
T2 - A phenotypic review and expansion
AU - Tipton, Philip W.
AU - Guthrie, Kimberly
AU - Strongosky, Audrey
AU - Reimer, Ronald
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
P. Tipton has no disclosures relevant to the manuscript. K. Guthrie has no disclosures relevant to the manuscript. A. Strongosky has no disclosures relevant to the manuscript. R Reimer has no disclosures relevant to the manuscript. Z. Wszolek is supported by the NIH P50 NS072187, Mayo Clinic Center for Regenerative Medicine, Mayo Clinic Center for Individualized Medicine, Mayo Clinic Neuroscience Focused Research Team (Cecilia and Dan Carmichael Family Foundation), and The Sol Goldman Charitable Trust.
Publisher Copyright:
© 2016
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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.
KW - Autosomal dominant spinocerebellar ataxia
KW - Complex hereditary movement disorder
KW - Spinocerebellar ataxia type 15
KW - Whole exome sequencing
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U2 - 10.1016/j.pjnns.2016.10.006
DO - 10.1016/j.pjnns.2016.10.006
M3 - Review article
C2 - 27908616
AN - SCOPUS:85007280608
SN - 0028-3843
VL - 51
SP - 86
EP - 91
JO - Neurologia i Neurochirurgia Polska
JF - Neurologia i Neurochirurgia Polska
IS - 1
ER -