Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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))