par Manto, Mario 
;Legros, Benjamin
Référence Revue médicale de Bruxelles, 20, 6, page (495-503)
Publication Publié, 1999
;Legros, Benjamin Référence Revue médicale de Bruxelles, 20, 6, page (495-503)
Publication Publié, 1999
Article révisé par les pairs
| Résumé : | The autosomal dominant spinocerebellar ataxias (SCA) are a heterogeneous group of degenerative diseases presenting with ataxic gait, limbs ataxia, dysarthria and cerebellar oculomotor disturbances. Usually, cerebellar signs are associated with pyramidal signs, extra-pyramidal signs, spinal signs and signs of peripheral neuropathy. Neuropathological studies have disclosed an involvement of the cerebellum and its afferent/efferent pathways, of the brainstem and of the spinal cord. Distinct entities are now recognized : SCA1, SCA2, SCA3/Machado-Joseph disease, SCA4, SCA5, SCA6, SCA7 and dentatorubropallidoluysian atrophy (DRPLA). In most cases, a CAG trinucleotide repeat expansion has been demonstrated by genetic investigations. Moreover, recent studies have shown that autosomal dominant spinocerebellar ataxias are characterized by intra-nuclear inclusions containing polyglutamine in affected cells. These complexes might play a determinant role in the neurodegenerative process. Cell death could be due to accumulation of a polyglutamine as a result of trinucleotide repeats. |
