SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS

Question 1

What is  SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS?

Accepted Answer

rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 270550

Question 3

Which enzymes are involved?

Accepted Answer

Sacsin

Disease	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
OMIM	270550 OMIM = Online Mendelian Inheritance of Men
Orphanet	98
Protein (UniProt)	Sacsin
Gene locus	13q12.12
ICD
Summary	rare autosomal recessive
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia defect of walking, running, rising or climbing dysarthria dysmetria gait disturbance hyperreflexia hypertonia, spasticity mental retardation muscle weakness neuropathy onset, childhood onset, infancy pyramidal signs spastic paraplegia urinary urgency