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Dentatorubropallidoluysian atrophy: Further development of human neuropathology
Author(s) -
Mizutani Toshio
Publication year - 1995
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1995.tb00257.x
Subject(s) - neuropathology , atrophy , neuroscience , human disease , phenotype , disease , pathology , gene , medicine , biology , genetics
The discovery of the abnormalities of CAG codon repeats in dentatorubropallidoluysian atrophy (DRPLA) by gene analysis has had a strong impact on human neuropathology. Some believe that the new method can show all aspects of this disease. This paper highlights many gaps which exist between the genotype and the phenotype, and consider that human Neuropathology could fill these gaps. It is emphasized that pathogenetical investigation, which is needed to link gene abnormalities, has been inadequate to date. It is also stressed that a clinico‐anatomical approach is still necessary for progress in pathogenetical research and human neuro‐anatomy.