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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 24, 2023 - Issue 1-2
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Brief Reports: Genomics

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

Yousef Daneshmandpour1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;2 Cytogene Genetic Diagnostic Laboratory, Tabriz, IranView further author information
,
Zahra Bahmanpour1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, IranView further author information
,
Somayeh Kazeminasab1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, IranORCID Iconhttps://orcid.org/0000-0002-8924-3679View further author information
ORCID Icon,
Ehsan Aghaei Moghadam3 Department of Pediatrics, School of Medicine, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IranView further author information
,
Elham Alehabib4 Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, IranView further author information
,
Marjan Chapi4 Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, IranView further author information
,
Abbas Tafakhori5 Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, IranView further author information
,
Negar Aghaei6 Research Center of Psychiatry and Behavioral Sciences, Tabriz University of Medical Sciences, Tabriz, IranView further author information
,
Hossein Darvish7 Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran;8 Cancer Research Center, Semnan University of Medical Sciences, Semnan, IranCorrespondence[email protected]
View further author information
&
Babak Emamalizadeh1 Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran;2 Cytogene Genetic Diagnostic Laboratory, Tabriz, IranCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-5448-351XView further author information
ORCID Icon show all
Pages 148-151 | Received 02 May 2022, Accepted 04 Jul 2022, Published online: 19 Jul 2022

References

  • Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leão M. Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet. 2014;2014:691515.
  • Kress JA, Kuhnlein P, Winter P, Ludolph AC, Kassubek J, Muller U, et al. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. Ann Neurol. 2005;58:800–3.
  • Topp JD, Gray NW, Gerard RD, Horazdovsky BF. Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor. J Biol Chem. 2004;279:24612–23.
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  • Jaffrey SR, Wilkinson MF. Nonsense-mediated RNA decay in the brain: emerging modulator of neural development and disease. Nat Rev Neurosci. 2018;19:715–28.
  • Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE. Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration. Neurochem Int. 2007;51:74–84.
  • Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, et al. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002;71:518–27.
  • Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, et al. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82:1065–7.

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