Literature DB >> 1407388

Dominantly inherited hypoplasia of the vermis.

F Rivier1, B Echenne.   

Abstract

A mother and her two daughters with presumed dominantly inherited, non-progressive, congenital cerebellar ataxia are reported. Magnetic resonance imaging revealed vermal hypoplasia in one case, and generalized hypoplasia of the cerebellum, predominating at the vermal level, in another case. These patients are identical to those previously published, except for a slowly progressive improvement of motor abilities observed during evolution.

Entities:  

Mesh:

Year:  1992        PMID: 1407388     DOI: 10.1055/s-2008-1071342

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  2 in total

Review 1.  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

2.  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

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.