Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.

G Kuhlenbäumer; P Lüdemann; A Schirmacher; E De Vriendt; G Hünermund; P Young; M Hund-Georgiadis; G Schuierer; H Möller; EB Ringelstein; +3 more... C Van Broeckhoven; V Timmerman; F Stögbauer; (2004) Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. Neurology, 62 (12). pp. 2203-2208. ISSN 1526-632X DOI: 10.1212/01.wnl.0000130485.89814.10
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OBJECTIVE: To describe the clinical and neuroradiologic features and chromosomal mapping of a novel autosomal dominant disease affecting the basal ganglia. METHODS: The authors characterized a large family with autosomal dominant basal ganglia disease (ADSD) clinically and by MRI, MR spectroscopy (MRS), and SPECT. The authors performed a whole genome genetic linkage scan to map the underlying genetic defect. RESULTS: The main clinical features of the disease are dysarthria and gait disturbance without any apparent reduction in life expectancy. MRI demonstrated a distinctive lesion pattern restricted mainly to the putamen and caudate nucleus. Genetic linkage analysis localized the causative genetic defect to a 3.25 megabase candidate region on chromosome 5q13.3-q14.1. CONCLUSIONS: ADSD is an autosomal dominant basal ganglia disease mapping to chromosome 5q13.3-q14.1.

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