Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0007758 (
cerebellar ataxia
)
3,609
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive
cerebellar ataxia
and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in
selenoprotein
synthesis can also result in milder cerebellar atrophy presenting at a later age.
...
PMID:A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. 2946 31
