NDLI: Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19)

Content Provider	Springer Nature Link
Author	Schelhaas, H. Jurgen Warrenburg, Bart P. C.
Copyright Year	2005
Abstract	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.
Starting Page	51
Ending Page	54
Page Count	4
File Format	PDF
ISSN	14734222
Journal	The Cerebellum
Volume Number	4
Issue Number	1
e-ISSN	14734230
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	SCA19 SCA22 mutation Dutch family Chinese family Neurosciences Neurobiology Neurology
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

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Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19)