SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5

Question 1

What is  SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5?

Accepted Answer

very rare

autosomal recessive

mutation in the AFG3L2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614487

Question 3

Which enzymes are involved?

Accepted Answer

AFG3-like protein 2

Disease	SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5
OMIM	614487 OMIM = Online Mendelian Inheritance of Men
Orphanet	313772
Protein (UniProt)	AFG3-like protein 2
ExPASy	3.4.24.B18
Gene locus	18p11.21
ICD
Summary	very rare autosomal recessive mutation in the AFG3L2 gene
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment dysarthria dysphagia dystonia epilepsy hypertonia, spasticity muscle atrophy myoclonus no clinical symptoms (probably) onset, childhood onset, infancy peripheral neuropathy ptosis (drooping eyelid)