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:C0042571 (
vertigo
)
7,148
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Two cases of spinocerebellar ataxia type 14 (SCA14) with a G128D mutation in the
protein kinase C gamma
gene (PRKCG) without a definite family history have been reported previously. Here, we describe the first familial cases of SCA14 with a G128D mutation in PRKCG. Among three family members, the chief complaints varied and included ataxic gait, cervical dystonia, and positional
vertigo
. Moreover, retinal degeneration and facial muscle weakness were observed, although these are not expected to be present in SCA14. Cerebral blood flow evaluation using single photon emission computed tomography (SPECT) also differed among family members. It is possible that patients with the G128D mutation suffering from SCA14 may sometimes be classified as unaffected due to the varying clinical signs among family members.
...
PMID:Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 1898 58
