Huntington's Disease: Relationship Between Phenotype and Genotype.

doi:10.1007/s12035-015-9662-8

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Article

Huntington's Disease: Relationship Between Phenotype and Genotype.

Molecular neurobiology - 1 Jan 2017

Sun Yi-Min, Zhang Yan-Bin, Wu Zhi-Ying

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG...

Topics

Animals
Genotype
Humans
Huntingtin Protein
Huntington Disease
Mutation
Phenotype
Trinucleotide Repeat Expansion

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Open in PubMed

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PMID: 26742514
DOI: 10.1007/s12035-015-9662-8

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