Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier than the onset of symptoms. Causal gene mutations are discovered in the cyclic nucleotide phosphodiesterase (PDE) genes.
Appenzeller S, Schirmacher A, Halfter H, Baumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stogbauer F, Ludemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbaumer G
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Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
Kuhlenbaumer G, Ludemann P, Schirmacher A, De Vriendt E, Hunermund G, Young P, Hund-Georgiadis M, Schuierer G, Moller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stogbauer F
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Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
