Literature DB >> 12402269

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Isabelle Vuillaume1, David Devos, Susanna Schraen-Maschke, Christian Dina, Arnaud Lemainque, Francis Vasseur, Guy Bocquillon, Patrick Devos, Carole Kocinski, Christiane Marzys, Alain Destée, Bernard Sablonnière.   

Abstract

We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3-p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.

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Mesh：

Year:  2002        PMID： 12402269     DOI： 10.1002/ana.10344

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  13 in total

1.  The highly heterogeneous spinocerebellar ataxias: from genes to targets for therapeutic intervention.

Authors:  Antoni Matilla-Dueñas
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

2.  Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

Authors:  Pedro Braga-Neto; José Luiz Pedroso; Orlando G P Barsottini; Jeremy D Schmahmann
Journal:  Brain       Date:  2015-01-08       Impact factor: 13.501

3.  Identification of the SCA21 disease gene: remaining challenges and promising opportunities.

Authors:  Jacqueline M Ward; Albert R La Spada
Journal:  Brain       Date:  2014-10       Impact factor: 13.501

4.  The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240).

Authors:  Emma D Burdekin; Brent L Fogel; Shafali S Jeste; Julian Martinez; Jessica E Rexach; Charlotte DiStefano; Carly Hyde; Tabitha Safari; Rujuta B Wilson
Journal:  J Child Neurol       Date:  2020-07-24       Impact factor: 1.987

Review 5.  The wide spectrum of spinocerebellar ataxias (SCAs).

Authors:  Mario-Ubaldo Manto
Journal:  Cerebellum       Date:  2005       Impact factor: 3.847

6.  Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Authors:  Yusaku Shimizu; Kunihiro Yoshida; Tomomi Okano; Shinji Ohara; Takao Hashimoto; Yoshimitsu Fukushima; Shu-Ichi Ikeda
Journal:  J Hum Genet       Date:  2004-10-08       Impact factor: 3.172

7.  Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

Authors:  Ryuki Hirano; Hiroshi Takashima; Ryuichi Okubo; Keiko Tajima; Yuji Okamoto; Shimon Ishida; Kazuhito Tsuruta; Takayo Arisato; Hitoshi Arata; Masanori Nakagawa; Mitsuhiro Osame; Kimiyoshi Arimura
Journal:  Neurogenetics       Date:  2004-09-29       Impact factor: 2.660

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.  Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).

Authors:  J Delplanque; D Devos; I Vuillaume; A De Becdelievre; E Vangelder; C A Maurage; K Dujardin; A Destée; B Sablonnière
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

10.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847
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