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Summary
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE SACS
270550
OMIM = Online Medalian Inheritance of Men
98
13q12.12
rare
autosomal recessive
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
laboratory finding
Literature
Olahova M,et al.Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduriaJ Inherit Metab Dis401121-1302017
Shahrour MA,et al.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutationsClin Genet915690-6962017
Kanavin OJ,et al.2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case reportJ Med Case Rep10982007
Mandel H,et al.Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduriaJ Med Genet5310690-6962016