SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Question 1

What is  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25?

Accepted Answer

very rare

autosoma recessive

mutation in the ATG5 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617584

Question 3

Which enzymes are involved?

Accepted Answer

Autophagy protein 5

Disease	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25
OMIM	617584 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Autophagy protein 5
Gene locus	6q21
ICD
Summary	very rare autosoma recessive mutation in the ATG5 gene
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment defect of walking, running, rising or climbing dysmetria nystagmus onset, infancy psychomotor retardation