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Table 1 Autosomal dominant neurodegenerative diseases [97-98]

From: Transgenic nonhuman primates for neurodegenerative diseases

Disease Mutant Gene Mutation Transgenic Mouse Model
FAD APP Mainly missense Mutant APP and APP:PS1
FAD PS1 Mainly missense Mutant PS1
FAD PS2 Mainly missense Mutant PS2
FALS SOD1 Mainly missense Mutant SOD1
FTDP-17 Tau Missense & splice Mutant Tau
PD α-synuclein Missense wt/mutant αsyn
Prion PrP Mainly missense Mutant PrP
HD huntingtin Polyglutamine huntingtin (expanded repeat)
SCA-1 ataxin-1 Polyglutamine ataxin-1 (expanded repeat)
SCA-3 ataxin-3 Polyglutamine ataxin-3 (expanded repeat)
DRPLA atrophin-1 Polyglutamine atrophin-1 (expanded repeat)
  1. FAD: Familial Alzheimer's Disease FALS: Familial amyotrophic lateral sclerosis with Parkinsonism HD: Huntington's Disease DRPLA: Dentatorubral and pallidoluysian atrophy PD: Parkinson's Disease SCA: Spinocerebellar ataxias FTDP: Frontotemporal Dementia