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. Author manuscript; available in PMC: 2010 Jan 1.
Published in final edited form as: Ageing Res Rev. 2008 Jul 18;8(1):1–17. doi: 10.1016/j.arr.2008.07.003

Table I. Genetic mutations in Alzheimer's Disease (AD) and Parkinson's Disease (PD).

Gene/protein Pathology Function Form Refs.
APP Senile plaques unknown familial AD Goate et al. 1991
PS1 Senile plaques Notch signaling familial AD Sherrington et al. 1995
PS2 Senile plaques Notch signaling familial AD Levy-Lahad et al. 1995
ApoE Senile plaques & neurofibrillary tangles cholesterol regulation and triglyceride metabolism familial & sporadic AD Corder et al. 1993; Strittmatter and Roses 1996
α-synuclein Lewy bodies synaptic vesicle processing familial & sporadic PD Polymeropoulos et al. 1997
DJ-1 unknown cellular stress response familial PD Kruger et al. 1998; Zarranz et al. 2004
LRRK2 Lewy bodies mitochondrial-associated protein kinase familial & sporadic PD Zimprich et al. 2004; Paisan-Ruiz et al. 2004
Parkin Lewy bodies, rarely ubiquitination of proteins familial PD Kitada et al. 1998
PINK-1 unknown mitochondrial kinase familial PD Valente et al. 2004
UCH-L1 Lewy bodies de-ubiquitination of proteins familial & sporadic PD Leroy et al. 1998