Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Abstract Background Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neur...

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Bibliographic Details
Main Authors: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Human phenotype ontologies
Congenital non-progressive spinocerebellar ataxia
Spinocerebellar ataxia type 29
SCA29
Cerebellar atrophy
ITPR1
Online Access:http://link.springer.com/article/10.1186/s13023-017-0672-7

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