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:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Exome sequencing revealed a novel missense mutation (c.2152G>A, p.E713K) in the
KIAA0196
gene in a Japanese patient with SPG8. To date, only 10 mutations in the
KIAA0196
gene have been reported in the world. We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. Notably, our patient showed mild upper limb
ataxia
, which is a relatively atypical symptom of SPG8. Thus, our patient showed a wide clinical spectrum of SPG8.
...
PMID:Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. 2696 22
