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Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

Published online by Cambridge University Press:  02 December 2014

Josef Finsterer
Josef Finsterer*
Affiliation:
Krankenanstalt Rudolfstiftung, Vienna, Austria, Europe
*
Postfach 20, 1180 Vienna, Austria, Europe
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Abstract

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Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.

**Please see page 424 for abbreviation list.

Résumé:

RÉSUMÉ:

Les ataxies héréditaires regroupent des maladies génétiques dont la principale manifestation clinique est un syndrome cérébelleux. La classification actuelle de ces ataxies est basée sur le mode d’hérédité, soit autosomique dominant, autosomique récessif, lié à l’X et maternel. Les ataxies héréditaires autosomiques dominantes sont divisées en ataxies spinocérébelleuses (SCA1-8, 10-15, 17-23, 25-30 et atrophie dentato-rubro-pallido-luysienne), ataxies épisodiques (EA1-7) et ataxies héréditaires autosomiques dominantes mitochondriales (syndrome de Leigh, MIRAS, ADOAD et AD-CPEO). Les ataxies autosomiques récessives sont l’ataxie de Friedreich, l’ataxie due à un déficit en vitamine E, l’ataxie due à l’abêta-lipoprotéinémie, la maladie de Refsum, la maladie de Tay-Sachs à début tardif, la xanthomatose cérébrotendineuse, l’ataxie spinocérébelleuse avec neuropathie axonale, l’ataxie télangiectasie, l’ataxie ressemblant à l’ataxie télangiectasie, l’ataxie avec apraxie oculomotrice 1 et 2, l’ataxie spastique de Charlevoix-Saguenay, l’ataxie des îles Caïman, le syndrome deMarinesco- Sjögren et les ataxies mitochondriales autosomiques récessives (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL déficit en coenzyme Q, déficit en PDC). Seulement deux des ataxies héréditaires, le syndrome de l’X fragile/tremblement/ataxie et le XLSA/A ont un mode de transmission lié à l’X. Les ataxies héréditaires dont l’hérédité est maternelle sont dues à des mutations ponctuelles dans des gènes codant pour des ARNt, des ARNr, des sous-unités de la chaîne respiratoire ou des délétions/duplications uniques de grande taille de l’ADN mitochondrial dont MELAS, MERRF, KSS, PS,MILS, NARP et des maladies mitochondriales non syndromiques. Le traitement des ataxies héréditaires est un traitement symptomatique de soutien qui peut être bénéfique chez certains patients. **voir la page 424 pour la liste d’abrègement.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 36 , Issue 4 , July 2009 , pp. 409 - 428
Copyright
Copyright © The Canadian Journal of Neurological 2009

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