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Article

CAG mutation effect on rate of progression in Huntington's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2002

Squitieri F, Cannella M, Simonelli M

Abstract excerpt

Huntington's disease (HD) is progressively invalidating and caused by a CAG expanded mutation. We tested the effect of the mutation length on the rate of progression in a cohort of 80 patients clinically followed-up and genetically characterized. Two patients presenting an infantile and aggressive HD form starting under 10 years had over 90 repeats; the other patients did not show any influence of the CAG...

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PMID: 12548366
DOI: 10.1007/s100720200092

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