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Table 2 Familial ALS (fALS) gene mutations and clinical features

From: Amyotrophic lateral sclerosis

Familial ALS type Locus (gene address) Gene Inheritance Clinical pattern Mutations Causes sporadic disease
ALS1 21q SOD1 AD Classical > 120 yes
ALS2 2q33 ALSIN AR Young onset, UMN 10 no
ALS3 18q21   AD Classical not known not known
ALS4 9q34 SETX AD Young onset, slow 3 Probably not
ALS5 15q15 not known AR Young onset not known Probably not
ALS6 16q21 not known AD Classical not known not known
ALS7 20ptel-p13 not known AD Classical not known not known
ALS8 20q13.3 VAPB AD Varied 1 no
ALS-FTD 9q21-q22 not known AD With FTD not known not known
ALS-FTD 9p21.3 not known AD With FTD not known not known
ALS 14q11.2 Angiogenin AD Classical 6 Yes
FTD (FTD3) 3 CHMP2B AD FTD (ALS) 2 not known
ALS 1 TDP43 AD ALS 14 Yes
LMND 2p13 DCTNI AD LMND 1 (+ 4 in ALS?) Yes?
  1. AD = autosomal dominant; AR = autosomal recessive; CHMP2B = Chromatin modifying protein 2B; DCTNI = dynactin; FTD = frontotemporal lobe dementia; LMND = lower motor neuron disease; SETX = senataxin
  2. VAPB = Vesicle associated membrane protein.