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NEUROLOGY 2004;62:2203-2208
© 2004 American Academy of Neurology

Autosomal dominant striatal degeneration (ADSD)

Clinical description and mapping to 5q13–5q14

G. Kuhlenbäumer, MD*, P. Lüdemann, MD*, A. Schirmacher, MSc, E. De Vriendt, G. Hünermund, MD, P. Young, MD, M. Hund-Georgiadis, MD, G. Schuierer, MD, H. Möller, PhD, E. B. Ringelstein, MD, C. Van Broeckhoven, PhD, V. Timmerman, PhD and F. Stögbauer, MD

From the Department of Neurology (Drs. Kuhlenbäumer, Lüdemann, Hünermund, Young, Ringelstein, and Stögbauer, and A. Schirmacher), University of Münster; Department of Molecular Genetics (E. De Vriendt and Drs. Van Broeckhoven and Timmerman), Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium; Max-Planck-Institute for Human Cognitive and Brain Sciences (Drs. Hund-Georgiadis and Möller), Leipzig, Germany; Department of Neuroradiology (Dr. Schuierer), Bezirksklinikum, Regensburg, Germany; and Institute for Atherosclerosis Research (Dr. Kuhlenbäumer), Münster, Germany.

Address correspondence and reprint requests to Dr. G. Kuhlenbäumer, Department of Neurology, University of Münster, Albert-Schweitzer-Str. 33, D-48129 Münster, Germany; e-mail: gkuhlen{at}uni-muenster.de

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.

Received December 5, 2003. Accepted in final form February 20, 2004.

*These authors contributed equally.






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