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Journal Article

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

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Hund-Georgiadis,  Margret
Department Cognitive Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Möller,  Harald E.
Methods and Development Unit Nuclear Magnetic Resonance, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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http://www.neurology.org/content/62/12/2203.abstract
(Abstract)

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Citation

Kuhlenbäumer, G., Lüdemann, P., Schirmacher, A., De Vriendt, E., Hünermund, G., Young, P., et al. (2004). Autosomal dominant striatal degeneration (ADSD). Clinical description and mapping to 5q13-5q14. Neurology, 62(12), 2203-2208. doi:10.1212/01.WNL.0000130485.89814.10.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-9FDB-A
Abstract
AB 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.