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GENATLAS PHENOTYPE

last update : 13/11/2007

Symbol	SPG5A
Location	8q12.3
HGNC id	11234
Name	spastic paraplegia 5A
Corresponding gene	CYP7B1
Other symbol(s)	SPG5
Main clinical features	pure autosomal recessive form . spastic paraparesis associated with deep sensory loss, and in several patients with long disease durations, there were also mild cerebellar signs
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

neurodegeneration associated with the CYP7B1 mutation may also be associated with a loss of neuroprotective function of DHEA-related neurosteroids