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

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

  • Neurology. 2004 Jun 22;62(12):2203-8. doi: 10.1212/01.wnl.0000130485.89814.10.
G Kuhlenbäumer 1,  P Lüdemann,  A Schirmacher,  E De Vriendt,  G Hünermund,  P Young,  M Hund-Georgiadis,  G Schuierer,  H Möller,  E B Ringelstein,  C Van Broeckhoven,  V Timmerman,  F Stögbauer
Affiliations

Affiliation

  • 1 Department of Neurology, University of Münster, Germany. gkuhlen@uni-muenster.de
PMID: 15210883 DOI: 10.1212/01.wnl.0000130485.89814.10
Abstract

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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