title: Genotype-phenotype correlation in CAG-repeat diseases.
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.
authors.affiliation: Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan. nori@bri.niigata-u.ac.jp
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Yamada
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D000818:Animals; D005838:Genotype; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D051379:Mice; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics* / Q000473:pathology*; D009474:Neurons / Q000473:pathology; D010455:Peptides / Q000235:genetics*; D010641:Phenotype; D018911:Trinucleotide Repeats
chemical_list: D010455:Peptides; C097188:polyglutamine