Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG1
Location	Xq28
HGNC id	11224
Name	X-linked spastic paraplegia
Corresponding gene	L1CAM
Other symbol(s)	SPPX1, XSP
Main clinical features	upper motor neuron syndrome, with insidiously progressive lower extremity spasticity neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus associated with mental retardation, and variably, hydrocephalus, aphasia, and adducted thumbs
Genetic determination	sex linked
Related entries	MASA, CRASH, HSAS
Function/system disorder	neurology
Type	disease

Gene product

Name	L1 cell adhesion molecule (L1CAM)

Remark(s)