Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19).
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.
Schelhaas
H Jurgen
HJ
Department of Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands. h.schelhaas@neuro.umcn.nl
van de Warrenburg
Bart P C
BP
D002874:Chromosome Mapping; D004558:Electric Stimulation; D004569:Electroencephalography; D008040:Genetic Linkage; D006801:Humans; D009431:Neural Conduction; D009483:Neuropsychological Tests; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000523:psychology*