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:C0040822 (
tremor
)
18,428
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The
SCA19
locus on chromosome 1p21-q21 was identified in a Dutch family in 2002. Affected individuals displayed a lateonset slowly progressive mild cerebellar ataxia, hyporeflexia, and signs of frontal lobe dysfunction. A postural head
tremor
and myoclonic movements were observed occasionally. Before the
SCA19
locus was identified, the
SCA22
symbol had been assigned to a locus on 1p21-q23 following a linkage study of a Chinese family with spinocerebellar ataxia. Although both
SCA19
and
SCA22
are linked to 1p21-q21, the clinical features are slightly different. While it cannot be excluded that the genes lie in close approximation at this locus, it is more likely that the same gene is mutated in both the Dutch and Chinese families, and that
SCA19
and
SCA22
represent the same condition.
...
PMID:Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19). 1589 60
