To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; Ξ±-__synuclein__ (__SNCA__), __parkin__ (__PARK2__), __PTEN-induced putative kinase 1__ (__PINK1__), __DJ-1__ (__PARK7__), and __Leucine-rich repeat kin
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
β Scribed by Manabu Funayama; Kazuko Hasegawa; Etsuro Ohta; Noriko Kawashima; Masaru Komiyama; Hisayuki Kowa; Shoji Tsuji; Fumiya Obata
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 92 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase. Recently, we identified novel compound heterozygous mutations, c.3176T4
We extend the spectrum of phenotypes caused by mutations in the Wnt/Norrin coreceptor low-density lipoprotein receptor-related protein 5 (LRP5) by identifying two novel types of mutation in related individuals whose presenting features were profound muscle hypotonia, mild mental retardation, blindne