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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.