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

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第一作者： Jessica L,Zambonin

第一单位： Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. jzambonin@cheo.on.ca.

作者： Jessica L,Zambonin ^[1] ; Allison,Bellomo ^[2] ; Hilla,Ben-Pazi ^[3] ; David B,Everman ^[2] ; Lee M,Frazer ^[2] ; Michael T,Geraghty ^[4] ; Amy D,Harper ^[5] ; Julie R,Jones ^[2] ; Benjamin,Kamien ^[6] ; Kristin,Kernohan ^[7] ; Mary Kay,Koenig ^[8] ; Matthew,Lines ^[4] ; Elizabeth Emma,Palmer ^[9] ; Randal,Richardson ^[10] ; Reeval,Segel ^[11] ; Mark,Tarnopolsky ^[12] ; Jason R,Vanstone ^[4] ; Melissa,Gibbons ^[13] ; Abigail,Collins ^[14] ; Brent L,Fogel ^[15] ; Care4Rare Canada Consortium ^[16] ; Tracy,Dudding-Byth ^[7] ; Kym M,Boycott

作者单位： Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. jzambonin@cheo.on.ca. ^[1] Greenwood Genetic Center, Greenwood, SC, USA. ^[2] Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel. ^[3] Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada. ^[4] Carolinas Healthcare System, Charlotte, NC, USA. ^[5] Hunter Genetics, Newcastle, NSW, Australia. ^[6] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.;Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada. ^[7] University of Texas Health Science Center at Houston, Houston, TX, USA. ^[8] Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia.;University of New South Wales, Randwick, Sydney, Australia. ^[9] Gillette Children's Specialty Healthcare, St Paul, MN, USA. ^[10] Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel. ^[11] Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada. ^[12] Department of Neurology, Children's Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA. ^[13] Departments of Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA. ^[14] Program in Neurogenetics, Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. ^[15] University of Newcastle Australia, Grow Up Well Priority Research Centre & Hunter Genetics & NSW Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia. ^[16]

关键词 Cerebellar atrophy Clinical management Congenital non-progressive spinocerebellar ataxia Human phenotype ontologies ITPR1 SCA29 Spinocerebellar ataxia type 29