Autosomal dominant cerebellar ataxias.
Revue Neurologique. 2011-05-01; 167(5): 385-400
DOI: 10.1016/j.neurol.2011.01.015
Lire sur PubMed
1. Rev Neurol (Paris). 2011 May;167(5):385-400. doi: 10.1016/j.neurol.2011.01.015.
Epub 2011 May 5.
Autosomal dominant cerebellar ataxias.
Marelli C(1), Cazeneuve C, Brice A, Stevanin G, Dürr A.
Author information:
(1)Département de génétique et cytogénétique, consultation de génétique clinique,
CHU Pitié-Salpêtrière, AP-HP, 47, boulevard de l’Hôpital, 75013 Paris, France.
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.
Copyright © 2011. Published by Elsevier Masson SAS.
DOI: 10.1016/j.neurol.2011.01.015
PMID: 21546047 [Indexed for MEDLINE]