Genotype-phenotype correlation in CAG-repeat diseases.

Mitsunori Yamada; Shoji Tsuji; Hitoshi Takahashi

doi:10.1046/j.1440-1789.2002.00457.x

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Genotype-phenotype correlation in CAG-repeat diseases.

Mitsunori Yamada·Shoji Tsuji·Hitoshi Takahashi

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Abstract

The expansion of a CAG repeat is a common causative gene mutation in several hereditary neurodegenerative disorders, including dentatorubral-pallidoluysian atrophy (DRPLA). Although, in DRPLA, it is revealed that the variety of clinical manifestations is related to the variable expansion of the CAG repeat, there are still many problems in the correlation between the symptoms and neuropathologic findings. Recent immunohistochemical studies have revealed that diffuse intranuclear accumulation of mutant proteins with expanded polyglutamine stretches is a significant pathology in DRPLA, and involves a wide range of the CNS regions far beyond the lesion distribution previously established by neuronal loss. This novel pathology may become a clue for elucidating molecular mechanisms of neuronal dysfunction and establishing clinicopathological correlations in CAG-repeat diseases.

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Animals Genotype Humans Inclusion Bodies Mice Myoclonic Epilepsies, Progressive Neurons Peptides Phenotype Trinucleotide Repeats Journal Article Review

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Mitsunori Yamada, Shoji Tsuji, Hitoshi Takahashi. 2002. Genotype-phenotype correlation in CAG-repeat diseases.. https://doi.org/10.1046/j.1440-1789.2002.00457.x

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