遺伝性小脳失調症

Hereditary Cerebellar Ataxia

わが国における遺伝性小脳失調症は，常染色体顕性遺伝形式をとる病型，すなわち脊髄小脳失調症が多い。高度の遺伝的多様性があるが，症候学的・神経放射線学的特徴から遺伝子型を推定できることもある。病因遺伝子の翻訳領域または非翻訳領域におけるマイクロサテライト・リピート伸長変異に起因する病型が多く，神経変性に至る分子病態解明が進み，これまで治療選択肢が乏しかった脊髄小脳失調症の治療開発も大きく前進しつつある。

Abstract

Most cases of hereditary cerebellar ataxia follow an autosomal dominant inheritance pattern and are classified as spinocerebellar ataxia. Although there is a high degree of genetic heterogeneity, the genotype can sometimes be inferred based on symptomatological and neuroradiological characteristics. Many types of spinocerebellar ataxia are caused by microsatellite repeat expansion mutations in translated or untranslated regions of the causative gene. Substantial progress has been made in elucidating the molecular pathogenesis leading to neurodegeneration, and new treatments for spinocerebellar ataxia are being developed.