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Your search keyword '"Steckley, J L."' showing total 2 results
Start Over Author "Steckley, J L." Topic ataxia
2 results on '"Steckley, J L."'

1. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.

Author

Cader MZ, Steckley JL, Dyment DA, McLachlan RS, and Ebers GC

Subjects
Adolescent, Adult, Ataxia diagnosis, Ataxia physiopathology, Child, Chromosome Mapping, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Testing, Genome genetics, Genotype, Haplotypes, Humans, Inheritance Patterns, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Vertigo diagnosis, Vertigo genetics, Vertigo physiopathology, Ataxia genetics, Chromosomes, Human, Pair 1 genetics, Genetic Linkage genetics, Genetic Markers genetics, Genetic Predisposition to Disease genetics, Mutation genetics
Abstract

Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene.

Published
2005
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2. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus.

Author

Steckley JL, Ebers GC, Cader MZ, and McLachlan RS

Subjects
Adolescent, Adult, Canada, Child, Family Health, Female, Genes, Dominant, Humans, Male, Middle Aged, Pedigree, Ataxia genetics, Genetic Linkage, Tinnitus genetics, Vertigo genetics
Abstract

The authors report an autosomal dominant episodic ataxia that is clinically distinct from the other episodic ataxias. Vestibular ataxia, vertigo, tinnitus, and interictal myokymia are prominent; attacks are diminished by acetazolamide. Linkage analyses of markers flanking the EA1 and EA2 loci demonstrate genetic exclusion from the other autosomal dominant episodic ataxias. The authors suggest EA3 for periodic vestibulocerebellar ataxia and EA4 for the disorder described here.

Published
2001
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