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A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2023

Daneshmandpour Yousef, Bahmanpour Zahra, Kazeminasab Somayeh, Aghaei Moghadam Ehsan, Alehabib Elham, Chapi Marjan, Tafakhori Abbas, Aghaei Negar, Darvish Hossein, Emamalizadeh Babak

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a rare disorder that affects both upper and lower motor neurons. Mutations in Alsin Rho Guanine Nucleotide Exchange Factor (ALS2) correlates with three similar but distinctive syndromes, including the juvenile form of ALS. An Iranian Kurdish family was involved in this study and all members were evaluated with relevant clinical guidelines. Whole exome sequencing and sanger...

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PMID: 35852402
DOI: 10.1080/21678421.2022.2100263

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