Motor Neurone Disease

Gene: ALS2

Green List (high evidence)

>10 individuals from 4 unrelated families with ALS

PMID: 24562058
Identified homozygous truncating mutation with parents confirmed to be unaffected heterozygous carriers. 
2 unrelated consanguineous families 
Individuals had muscle weakness and muscle biopsy showing angular atrophic fibres with a dystonia phenotype and profound muscle atrophy

PMID: 11586298
>8 individuals from two unrelated families with ALS2 mutations and ALS phenotypes

Created: 17 May 2023, 12:26 a.m. | Last Modified: 17 May 2023, 12:26 a.m.

Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)

Publications

• 24562058
• 11586298

Green List (high evidence)

>50 variants reported in multiple individuals with Infantile onset ascending spastic paralysis, mostly originated from the Middle East and Mediterranean countries.
Sources: Literature

Created: 17 Aug 2021, 1:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)

Publications

• PMID: 30128655
• 33409823