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Amyotrophic Lateral Sclerosis, Autosomal Recessive

MedGen UID:
400170
•Concept ID:
C1862940
•
Disease or Syndrome

Recent clinical studies

Etiology

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A
Neurology 2016 Feb 2;86(5):446-53. Epub 2016 Jan 6 doi: 10.1212/WNL.0000000000002334. PMID: 26740678Free PMC Article

Diagnosis

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A
Neurology 2016 Feb 2;86(5):446-53. Epub 2016 Jan 6 doi: 10.1212/WNL.0000000000002334. PMID: 26740678Free PMC Article

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