Literature DB >> 3334022

Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis.

K Tomiwa1, M Baraitser, J Wilson.   

Abstract

We report a mother and daughter with congenital cerebellar ataxia and normal intelligence. Computed tomography revealed localized atrophy of the cerebellar vermis. This is the second case report of dominantly inherited, nonprogressive, congenital cerebellar ataxia.

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Year:  1987        PMID： 3334022     DOI： 10.1016/0887-8994(87)90008-7

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  3 in total

Review 1.  Recent advances in the genetic etiology of brain malformations.

Authors:  David A Dyment; Sarah L Sawyer; Jodi Warman Chardon; Kym M Boycott
Journal:  Curr Neurol Neurosci Rep       Date:  2013-08       Impact factor: 5.081

Review 2.  Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

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; Tracy Dudding-Byth; Kym M Boycott
Journal:  Orphanet J Rare Dis       Date:  2017-06-28       Impact factor: 4.123

3.  Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Authors:  Lijia Huang; Jodi Warman Chardon; Melissa T Carter; Kathie L Friend; Tracy E Dudding; Jeremy Schwartzentruber; Ruobing Zou; Peter W Schofield; Stuart Douglas; Dennis E Bulman; Kym M Boycott
Journal:  Orphanet J Rare Dis       Date:  2012-09-17       Impact factor: 4.123
  3 in total

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