Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG42
Location	3q25.31
Name	spastic paraplegia 42
Corresponding gene	SLC33A1
Main clinical features	progressive and bilateral spasticity of the legs variable features included dysarthria, ankle clonus, and increased muscle tone in the lower limbs uncomplicated onset age 4–40 years, possibly one instance of incomplete penetrance
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

mutation disrupting the second transmembrane domain in the transporter and reverses the orientation of all of the descending domains