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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