A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis

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A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis Publisher Pubmed

Daneshmandpour Y^{1, 2} ; Bahmanpour Z¹ ; Kazeminasab S¹ ; Aghaei Moghadam E³ ; Alehabib E⁴ ; Chapi M⁴ ; Tafakhori A⁵ ; Aghaei N⁶ ; Darvish H^{7, 8} ; Emamalizadeh B^{1, 2}

Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Published:2023

Abstract

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 sequencing were applied to all family members to undermine the possible genetic factors. A substitution c. 2110 C>T (p. Arg704X) identified in the ALS2 gene. Bioinformatics analysis indicated the mutation is located in the well-conserved and functional domain of the protein. This study recognized a novel mutation in the ALS2 gene in a proband with the juvenile form of ALS. To our knowledge, this is the first identified ALS2 mutation among the Iranian population. © 2022 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.

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Style	Citing Format
MLA	Daneshmandpour Y, et al.. "A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol. 24, no. 1-2, 2023, pp. 148-151.
APA	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, Tafakhori A, Aghaei N, Darvish H, Emamalizadeh B (2023). A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(1-2), 148-151.
Chicago	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, Tafakhori A, Aghaei N, Darvish H, Emamalizadeh B. "A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 24, no. 1-2 (2023): 148-151.
Harvard	Daneshmandpour Y et al. (2023) 'A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(1-2), pp. 148-151.
Vancouver	Daneshmandpour Y, Bahmanpour Z, Kazeminasab S, Aghaei Moghadam E, Alehabib E, Chapi M, et al.. A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2023;24(1-2):148-151.
BibTex	@article{ author = {Daneshmandpour Y and Bahmanpour Z and Kazeminasab S and Aghaei Moghadam E and Alehabib E and Chapi M and Tafakhori A and Aghaei N and Darvish H and Emamalizadeh B}, title = {A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis}, journal = {Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration}, volume = {24}, number = {1-2}, pages = {148-151}, year = {2023} }
RIS	TY - JOUR AU - Daneshmandpour Y AU - Bahmanpour Z AU - Kazeminasab S AU - Aghaei Moghadam E AU - Alehabib E AU - Chapi M AU - Tafakhori A AU - Aghaei N AU - Darvish H AU - Emamalizadeh B TI - A Novel Mutation in the Als2 Gene in an Iranian Kurdish Family With Juvenile Amyotrophic Lateral Sclerosis JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration VL - 24 IS - 1-2 SP - 148 EP - 151 PY - 2023 ER -

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