An understanding of spinocerebellar ataxia

[...]24 autosomal dominant ataxias - SCA1- SCA8, SCA10- SCA19, SCA21- SCA23, SCA25, dentatorubral-pallidoluysian atrophy (DRPLA) and ataxia caused by mutations in the gene that encodes fibroblast growth factor 14 (FGF14) have been identified. The "intermediate alleles," mutable normal alle...

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Bibliographic Details
Published in:Indian journal of medical research (New Delhi, India : 1994) India : 1994), 2015-02, Vol.141 (2), p.148-150
Main Authors: Ramachandra, N B, Kusuma, L
Format: Article
Language:English
Subjects:
Ataxia
Brain research
Disease
Gene expression
Genetic aspects
Genetic disorders
Genetic research
Genotype & phenotype
Humans
Molecular genetics
Mutation
Population
Proteins
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - physiopathology
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Summary:[...]24 autosomal dominant ataxias - SCA1- SCA8, SCA10- SCA19, SCA21- SCA23, SCA25, dentatorubral-pallidoluysian atrophy (DRPLA) and ataxia caused by mutations in the gene that encodes fibroblast growth factor 14 (FGF14) have been identified. The "intermediate alleles," mutable normal alleles are meiotically unstable and not convincingly associated with a phenotype. Because of the instability of alleles in the mutable normal range, an asymptomatic individual with a mutable normal allele may be predisposed to having a child with an expanded allele [9] . The genetic studies carried out on specific Indian population has pointed towards diverse genetic structure of present-day Indian populations which is mainly due to the social boundaries, strict endogamy practices and evolutionary forces. [...]obtaining accurate and detailed patient information and the family history from the study population becomes very crucial to the diagnostic process, in order to enable and assist in developing therapeutic and patient management strategies.
ISSN:0971-5916
0975-9174
DOI:10.4103/0971-5916.155537