Genetics of amyotrophic lateral sclerosis: an update

Chen, Sheng; Sayana, Pavani; Zhang, Xiaojie; Le, Weidong

doi:10.1186/1750-1326-8-28

Molecular Neurodegeneration

Table 1 The genetics Of fALS

From: Genetics of amyotrophic lateral sclerosis: an update

Genetic subtype	Chromosomal locus	Gene	Protein	Onset	Inheritance	Clinical feature	Other diseases caused by the gene
ALS1	21q22.1	SOD1	Cu/Zn SOD-1	Adult	AD/AR	Typical ALS	NA
ALS2	2q33-2q35	Alsin	Alsin	Juv	AR	Slowly progressive, predominantly UMN signs like limb, & facial spasticity	PLS IAHSP
ALS3	18q21	Unknown	Unknown	Adu	AD	Typical ALS with limb onset especially lower limb	NA
ALS4	9q34	SETX	Senataxin	Juv	AD	Slowly progressive, distal hereditary motor neuropathy with pyramidal signs	SCAR 1 and AOA2
ALS5	15q15-21	SPG 11	Spatacsin	Juv	AR	Slowly progressive	HSP
ALS6	16p11.2	FUS	Fused in Sarcoma	Juv/Adu	AD/AR	Typical ALS	NA
ALS8	20q13.3	VAPB	VAPB	Adu	AD	Typical and atypical ALS	SMA
ALS9	14q11.2	ANG	Angiogenin	Adu	AD	Typical ALS, FTD and Parkinsonism	NA
ALS10	1p36.2	TARDBP	DNA-binding protein	Adu	AD	Typical ALS	NA
ALS11	6q21	FIG 4	Phosphoinositide-5phosphatease	Adu	AD	Rapid progressive with prominent corticospinal tract signs	CMT 4 J
ALS12	10p13	OPTN	Optineurin	Adu	AD/AR	Slowly progressive with limb onset and predominant UMN signs	Primary Open Angle Glaucoma
ALS14	9p13.3	VCP	VCP	Adu	AD	Adult onset, with or without FTD	IBMPFD
ALS15/ALSX	Xp11	UBQLN2	Ubiquilin 2	Adu/Juv	XD	UMN signs proceeding LMN signs	NA
ALS16	9p13.2-21.3	SIGMAR1	SIGMAR1	Juv	AR	Juvenile onset typical ALS	FTD
ALS-FTD1	9q21-22	unknown	unknown	Adu	AD	ALS with FTD	FTD
ALS-FTD2	9p21	C9ORF72	C9ORF72	Adu	AD	ALS with FTD	FTD
NA	2p13	DCTN1	Dynactin	Adu	AD	Distal hereditary motor neuropathy with vocal paresis	NA
Other rare-occurring ALS genes
ALS3	18q21	Unknown	Unknown	Adu	AD	Typical ALS with limb onset especially lower limb	NA
ALS7	20ptel-p13	Unknown	Unknown	Adu	AD/AR	Typical ALS	NA
NA	12q22-23	DAO	DAO	Adu	AD	Typical ALS	NA

Up to date, more than 20-ALS genes have been identified in fALS. These genetic mutations represent different molecular pathways of motor neuron degeneration.
Abbreviations for Table 1: PLS Primary Lateral Sclerosis, IAHSP Infantile onset ascending hereditary spastic paralysis, SCAR 1 Autosomal Recessive Spino-cerebellar ataxia, AOA2 Ataxia Ocular Apraxia 2, HSP Hereditary spastic paraplegia, VAPB Vesicle associated membrane protein associated protein B, SMA Spinal Muscular Atrophy, CMT 4 J Charcot-Marie Tooth disease type 4 J, VCP Valosin Containing Protein, IBMPFD Inclusion body myopathy with Pagets disease and fronto temporal dementia, SIGMAR1 Sigma Non Opiod Intracellular Receptor, C9ORF72 Chromosome 9 open reading frame 72, PD Parkinson disease, DAO D-Amino Acid Oxidase, FTD Frontal-temporal dementia, AD Autosomal dominant, AR Autosomal recessive.

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ISSN: 1750-1326

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