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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Kuhlenbäumer, G. et al.

Kuhlenbäumer, Lüdemann, Schirmacher, De Vriendt, Hünermund, Young, Hund-Georgiadis, Schuierer, Möller, Ringelstein, Van Broeckhoven, Timmerman, Stögbauer,

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

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.[1]

References

Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14. Kuhlenbäumer, G., Lüdemann, P., Schirmacher, A., De Vriendt, E., Hünermund, G., Young, P., Hund-Georgiadis, M., Schuierer, G., Möller, H., Ringelstein, E.B., Van Broeckhoven, C., Timmerman, V., Stögbauer, F. Neurology (2004) [Pubmed]

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