Autosomal dominant cerebellar ataxias

被引：7

作者：

Marelli, C. ^{[1
,2
,3
,4
]}

Cazeneuve, C. ^{[5
]}

Brice, A. ^{[1
,2
,3
,4
,6
]}

Stevanin, G. ^{[1
,2
,3
,4
,5
,7
]}

Duerr, A. ^{[1
,2
,3
,4
]}

机构：

[1] CHU Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Consultat Genet Clin, F-75013 Paris, France

[2] CHU Pitie Salpetriere, INSERM, U975, F-75651 Paris 13, France

[3] Univ Paris 06, UMR S975, Ctr Rech Inst Cerveau & Moelle Epiniere, CHU Pitie Salpetriere, F-75651 Paris 13, France

[4] CHU Pitie Salpetriere, UMR 7225, CNRS, CHU Pitie Salpetriere, F-75651 Paris 13, France

[5] CHU Pitie Salpetriere, AP HP, Unite Fonct Neurogenet Mol & Cellulaire, Dept Genet & Cytogenet, F-75013 Paris, France

[6] Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75651 Paris 13, France

[7] Ecole Prat Hautes Etud, F-75007 Paris, France

来源：

REVUE NEUROLOGIQUE | 2011年 / 167卷 / 05期

关键词：

Spinocerebellar ataxia; Dominant genetic conditions; Ataxia; KINASE-C-GAMMA; DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; CAG TRINUCLEOTIDE REPEAT; MACHADO-JOSEPH-DISEASE; SPINOCEREBELLAR ATAXIA; CLINICAL-FEATURES; PURKINJE-CELLS; FIBROBLAST-GROWTH-FACTOR-14; GENE; EPISODIC ATAXIA; BRAIN-STEM;

D O I：

10.1016/j.neurol.2011.01.015

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Cerebellar ataxias with autosomal dominant transmission (ADCA) are far rarer than sporadic cases of cerebellar ataxia. The identification of genes involved in dominant forms has confirmed the genetic heterogeneity of these conditions and of the underlying mechanisms and pathways. To date, at least 28 genetic loci and, among them, 20 genes have been identified. In many instances, the phenotype is not restricted to cerebellar dysfunction but includes more complex multisystemic neurological deficits. Seven ADCA (SCA1, 2, 3, 6, 7, 17, and dentatorubro-pallido-luysian atrophy) are caused by repeat expansions in the corresponding proteins; phenotype-genotype correlations have shown that repeat size influences the progression of the disease, its severity and clinical differences among patients, including the phenomenon of anticipation between generations. All other ADCA are caused either by non-coding repeat expansions, conventional mutations or large rearrangements in genes with different functions. This review will focus on the genetic features of ADCA and on the clinical differences among the different forms. (C) 2011 Published by Elsevier Masson SAS.

引用

页码：385 / 400

页数：16

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