Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

  title={Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.},
  author={Silke Appenzeller and Anja Schirmacher and Hartmut Halfter and Sebastian B{\"a}umer and Manuela Pendziwiat and Vincent Timmerman and Peter de Jonghe and Kl{\'a}ra Fekete and Florian St{\"o}gbauer and Peter L{\"u}demann and Margret Hund and Elgar Susanne Quabius and E. Bernd Ringelstein and Gregor Kuhlenb{\"a}umer},
  journal={American journal of human genetics},
  volume={86 1},
Autosomal-dominant striatal degeneration (ADSD) is an autosomal-dominant movement disorder affecting the striatal part of the basal ganglia. ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. Using genetic linkage analysis, we have mapped the causative genetic defect to a 3.25 megabase candidate region on chromosome 5q13.3-q14.1. A maximum LOD score of 4.1 (Theta = 0) was obtained at marker… CONTINUE READING


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