Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Orphanet journal of rare diseases - 28 Jun 2017
Zambonin Jessica L, Bellomo Allison, Ben-Pazi Hilla, Everman David B, Frazer Lee M, Geraghty Michael T, Harper Amy D, Jones Julie R, Kamien Benjamin, Kernohan Kristin, Koenig Mary Kay, Lines Matthew, Palmer Elizabeth Emma, Richardson Randal, Segel Reeval, Tarnopolsky Mark, Vanstone Jason R, Gibbons Melissa, Collins Abigail, Fogel Brent L, Dudding-Byth Tracy, Boycott Kym M
Abstract excerpt
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 neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.