[Autosomal dominant spinocerebellar ataxia].
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 dentatorubropillidoluysian 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 pl ay a determinant role in the neurodegenerative process. Cell death could be due to accumulation of a polyglutamine as a result of trinucleotide repeats.
Legros
B
B
Service de Neurologie, Hôpital Erasme, U.L.B.
Manto
M U
MU
D000225:Adenine; D016923:Cell Death / Q000235:genetics; D003596:Cytosine; D005799:Genes, Dominant; D006147:Guanine; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics; D010455:Peptides / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
D010455:Peptides; C097188:polyglutamine; D006147:Guanine; D003596:Cytosine; D000225:Adenine