An <i>LRRK2</i> mutation as a cause for the parkinsonism in the original <i>PARK8</i> family

• Manabu Funayama

• Kazuko Hasegawa

• Etsuro Ohta

• Noriko Kawashima

• Masaru Komiyama

• Hisayuki Kowa

• Shoji Tsuji

• Fumiya Obata

抄録

We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus. The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided us with valuable information for elucidating the protein structure–pathogenesis relationship for the gene product of LRRK2 . We did not detect this mutation or other known mutations of the LRRK2 gene in Japanese patients with sporadic Parkinson's disease. Ann Neurol 2005

収録刊行物

• Annals of Neurology

  Annals of Neurology 57 (6), 918-921, 2005-05-04

  Wiley

キーワード

• Neurology (clinical)
• Neurology

詳細情報

• CRID: 1362262943328563584
• NII論文ID: 30008839514
• DOI: 10.1002/ana.20484
• ISSN: 15318249
• ISSN: 03645134
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.20484
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.20484
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