Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 18-12-2018
Symbol SNID2
Location 5q13.3
Name striatonigral degeneration, 2
Other name(s) striatal degeneration
Corresponding gene PDE8B
Other symbol(s) ADSD
Main clinical features
  • neurodegenerative movement disorder characterized by slowly progressive parkinsonism
  • dysarthria and gait disturbance without any apparent reduction in life expectancy, on MRI a distinctive lesion pattern restricted mainly to the putamen and caudate nucleus
  • bradykinesia, dysarthria, and muscle rigidity.
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s) . causing mutation results in a loss of all three functional domains of PDE8B which most likely causes a complete loss of function of the truncated protein (PMID: 20085714))