Literature DB >> 10522902

Clinical and MRI findings in spinocerebellar ataxia type 5.

G Stevanin1, A Herman, A Brice, A Dürr.   

Abstract

Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to chromosome 11 in a single family descending from the grandparents of President Abraham Lincoln. We report a second, apparently unrelated, SCA5 family of French origin. The overall clinical picture was a slowly progressive cerebellar syndrome beginning mostly in the third decade (27+/-10 years, range 14 to 40). MRI showed a marked global cerebellar atrophy similar to SCA6.

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Year:  1999        PMID： 10522902     DOI： 10.1212/wnl.53.6.1355

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  21 in total

1.  Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

Authors:  Emma M Perkins; Yvonne L Clarkson; Nancy Sabatier; David M Longhurst; Christopher P Millward; Jennifer Jack; Junko Toraiwa; Mitsunori Watanabe; Jeffrey D Rothstein; Alastair R Lyndon; David J A Wyllie; Mayank B Dutia; Mandy Jackson
Journal:  J Neurosci       Date:  2010-04-07       Impact factor: 6.167

2.  Magnetic resonance imaging in spinocerebellar ataxias.

Authors:  Susanne Döhlinger; Till-Karsten Hauser; Johannes Borkert; Andreas R Luft; Jörg B Schulz
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

3.  Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.

Authors:  A Herman-Bert; G Stevanin; J C Netter; O Rascol; D Brassat; P Calvas; A Camuzat; Q Yuan; M Schalling; A Dürr; A Brice
Journal:  Am J Hum Genet       Date:  2000-05-11       Impact factor: 11.025

Review 4.  Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.

Authors:  Elan D Louis; Phyllis L Faust
Journal:  Cerebellum       Date:  2020-12       Impact factor: 3.847

5.  A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Authors:  Ying Wang; Kishin Koh; Michiaki Miwa; Nobuo Yamashiro; Kazumasa Shindo; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2014-08-21       Impact factor: 3.172

Review 6.  Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.

Authors:  Stuart Currie; Marios Hadjivassiliou; Ian J Craven; Iain D Wilkinson; Paul D Griffiths; Nigel Hoggard
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

Review 7.  The spinocerebellar ataxias: order emerges from chaos.

Authors:  Russell L Margolis
Journal:  Curr Neurol Neurosci Rep       Date:  2002-09       Impact factor: 5.081

8.  Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

Authors:  Rehana Basri; Ichiro Yabe; Hiroyuki Soma; Hidenao Sasaki
Journal:  J Hum Genet       Date:  2007-09-05       Impact factor: 3.172

9.  Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.

Authors:  Karen R Armbrust; Xinming Wang; Tyisha J Hathorn; Samuel W Cramer; Gang Chen; Tao Zu; Takashi Kangas; Anastasia N Zink; Gülin Öz; Timothy J Ebner; Laura P W Ranum
Journal:  J Neurosci       Date:  2014-07-23       Impact factor: 6.167

10.  Screening of the SPTBN2 (SCA5) gene in German SCA patients.

Authors:  C Zühlke; V Bernard; A Dalski; P Lorenz; B Mitulla; G Gillessen-Kaesbach; K Bürk
Journal:  J Neurol       Date:  2007-10-25       Impact factor: 4.849
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