Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/3131
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Type: Journal article
Title: Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
Author: Dudding, T.
Friend, K.
Schofield, P.
Lee, S.
Wilkinson, I.
Richards, R.
Citation: Neurology, 2004; 63(12):2288-2292
Publisher: Lippincott Williams & Wilkins
Issue Date: 2004
ISSN: 0028-3878
1526-632X
Organisation: Centre for the Molecular Genetics of Development
Statement of
Responsibility: 
T.E. Dudding, K. Friend, P.W. Schofield, S. Lee, I.A. Wilkinson and R.I. Richards
Abstract: Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA). Methods: The authors ascertained and clinically characterized a four-generation pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1, 2, 3, 4, 5, 6, 7, 8, 10, 12, 17, IOSCA, and DRPLA), a genome-wide linkage study was performed. Results: Examination of the family showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyramidal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1620 (approximately 8 cM). Conclusion: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter.
Keywords: Chromosomes, Human, Pair 3; Humans; Spinocerebellar Degenerations; Language Development Disorders; Dysarthria; Psychomotor Disorders; Nerve Tissue Proteins; Nuclear Proteins; Genetic Markers; Magnetic Resonance Imaging; Polymerase Chain Reaction; Pedigree; Cognition Disorders; Microsatellite Repeats; Genes, Dominant; Lod Score; Adolescent; Adult; Aged; Aged, 80 and over; Middle Aged; Child; Child, Preschool; Female; Male
RMID: 0020042497
DOI: 10.1212/01.WNL.0000147299.80872.D1
Appears in Collections:Molecular and Biomedical Science publications
Centre for the Molecular Genetics of Development publications

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