| Autor: |
Funayama, Manabu, Hasegawa, Kazuko, Ohta, Etsuro, Kawashima, Noriko, Komiyama, Masaru, Kowa, Hisayuki, Tsuji, Shoji, Obata, Fumiya |
| Zdroj: |
Annals of Neurology; June 2005, Vol. 57 Issue: 6 p918-921, 4p |
| Abstrakt: |
We detected a missense mutation in the kinase domain of the LRRK2gene 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 PARK8Parkinson'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 LRRK2gene in Japanese patients with sporadic Parkinson's disease. Ann Neurol 2005 |
| Databáze: |
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