First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity

Nabila Hamdi , Kathrin Mueller , Amr Hamza , Radwa Soliman , Enass Onbool , Kareem Omran , Omnia Ocab , Axel Freischmidt , Reiner Siebert , Albert Ludolph , Nagia Fahmy

Front. Med. ›› 2024, Vol. 18 ›› Issue (6) : 1115 -1118.

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Front. Med. ›› 2024, Vol. 18 ›› Issue (6) : 1115 -1118. DOI: 10.1007/s11684-024-1100-8
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First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity

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Nabila Hamdi, Kathrin Mueller, Amr Hamza, Radwa Soliman, Enass Onbool, Kareem Omran, Omnia Ocab, Axel Freischmidt, Reiner Siebert, Albert Ludolph, Nagia Fahmy. First insights into genotype and phenotype of familial amyotrophic lateral sclerosis in Egypt: early onset and high consanguinity. Front. Med., 2024, 18(6): 1115-1118 DOI:10.1007/s11684-024-1100-8

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References

[1]

Luna J, Diagana M, Ait Aissa L, Tazir M, Ali Pacha L, Kacem I, Gouider R, Henning F, Basse A, Cisse O, Balogou AAK, Kombate D, Agbetou M, Houinato D, Millogo A, Agba T, Belo M, Penoty M, Raymondeau-Moustafa M, Hamidou B, Couratier P, Preux PM, Marin B. Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study. J Neurol Neurosurg Psychiatry 2019; 90(1): 20–29

[2]

Kacem I, Sghaier I, Bougatef S, Nasri A, Gargouri A, Ajroud-Driss S, Gouider R. Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort. Amyotroph Lateral Scler Frontotemporal Degener 2020; 21(1–2): 131–139

[3]

Kacem I, Sghaier I, Peverelli S, Souissi E, Ticozzi N, Gharbi A, Ratti A, Berrechid AG, Silani V, Gouider R. Genotype-phenotype correlation in Tunisian patients with amyotrophic lateral sclerosis. Neurobiol Aging 2022; 120: 27–33

[4]

Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM. Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis. Neurol Genet 2022; 8(1): e654

[5]

Fahmy N, Müller K, Andersen PM, Marklund SL, Otto M, Ludolph AC, Hamdi N. A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity. J Neurol 2023; 270(3): 1770–1773

[6]

Soliman R, Rashed HR, Moustafa RR, Hamdi N, Swelam MS, Osman A, Fahmy N. Egyptian adaptation and validation of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis Screen (ECAS-EG). Neurol Sci 2023; 44(6): 1871–1880

[7]

Rashed HR, Tork MA. Diagnostic delay among ALS patients: Egyptian study. Amyotroph Lateral Scler Frontotemporal Degener 2020; 21(5-6): 416–419

[8]

Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN. A recessive S174X mutation in optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay. Neurobiol Aging 2021; 106: 351.e1–351.e6

[9]

He D, Liu Y, Dong S, Shen D, Yang X, Hao M, Yin X, He X, Li Y, Wang Y, Liu M, Wang J, Chen X, Cui L. The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients. J Neurol 2024; 271(3): 1385–1396

[10]

Bertolin C, D’Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML. Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. Neurobiol Aging 2014; 35(5): 1212.e7–1212.e10

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