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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A0Y Other specified movement disorders
H01570 Autosomal dominant striatal degeneration
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
Title
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
Title
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
