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  • Title: The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.
    Author: Robitaille Y, Lopes-Cendes I, Becher M, Rouleau G, Clark AW.
    Journal: Brain Pathol; 1997 Jul; 7(3):901-26. PubMed ID: 9217975.
    Abstract:
    Classification of inherited neurodegenerative diseases is increasingly based on their genetic features, which supplement, clarify, and sometimes replace the older clinical and pathologic schemata. This change has been particularly rapid and impressive for the CAG repeat disorders. In Huntington's disease, X-linked spinobulbar muscular atrophy, dentatorubropallidoluysian atrophy, and a series of autosomal dominant cerebellar atrophies, genetic advances have resolved many nosologic issues, and opened new avenues for exploration of pathogenesis. In this review, we summarize classic and current concepts in neuropathology of these CAG repeat diseases.
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