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'SCD)は,同一疾患でさえ発症年齢や経過年数により出現する症状が異なるなど臨床的多様性が著しく,そのため臨床徴候からの診断は必ずしも容易ではなかった.従来の研究手法では解明できなかったことのような遺伝性SCDについて,ポジショナルクローニングと呼ばれる分子遺伝子学的手法を用いることにより,近年続々と原因遺伝子の解析が進み,': [2], 'SCDの診断は新しい局面を向かえつつある.遺伝子そのものが同定された疾患としてはspinocerebellar': [3], 'ataxia': [4, 8], 'type': [5, 9], '1': [6], '(SCA1),歯状核赤核淡蒼球ルイ体萎縮症があり,これらの疾患はCAGリピートの増大を原因とする3塩基リピート病であることが判明している.また,連鎖解析により遺伝子座位が解明されたSCDとしてはspinocerebellar': [7], '2': [10], '(SCA2),': [11], 'Machado-Joseph病,家族性痙性対麻痺,': [12], 'Friedreich失調症がある.このような疾患に対する遺伝子診断は,実際に臨床応用され始めており,': [13], 'SCDの病型分類を考える上でも非常に重要な意義をもつ.': [14]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2328729034', 'counts_by_year': [], 'updated_date': '2024-09-16T13:19:07.962919', 'created_date': '2016-06-24'}