SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (SPG5A)

Question 1

What is  SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (SPG5A)?

Accepted Answer

very rare

autosomal recessive

mutation in the CYP7B1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 270800

Question 3

Which enzymes are involved?

Accepted Answer

Cytochrome P450 7B1

Disease	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (SPG5A)
OMIM	270800 OMIM = Online Mendelian Inheritance of Men
Orphanet	100986
Protein (UniProt)	Cytochrome P450 7B1
ExPASy	1.14.13.100
Gene locus	8q12.3
ICD
Summary	very rare autosomal recessive mutation in the CYP7B1 gene
Laboratory findings	27-Hydroxycholesterol inc (cerebrospinal fluid) 27-Hydroxycholesterol inc (plasma)
Symptoms	spastic paraplegia cataract cognitive impairment defect of walking, running, rising or climbing dysarthria gait disturbance hyperreflexia nystagmus onset, adolescent onset, childhood optic atrophy white matter changes, abnormalities