Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor

Mehri Salari,Masoud Etemadifar, Mostafa Neshat Ghalibaf, Fatemeh Azizi, Maryam Davoodi,Sareh Asadi

MOVEMENT DISORDERS CLINICAL PRACTICE(2023)

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Movement Disorders Clinical PracticeVolume 10, Issue 5 p. 835-838 LETTERS: GENOTYPE AND PHENOTYPE Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor Mehri Salari MD, Mehri Salari MD orcid.org/0000-0002-1675-681X Neurology Department, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Neurosurgery, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, IranSearch for more papers by this authorMasoud Etemadifar MD, Masoud Etemadifar MD Faculty of Medicine, Isfahan University of Medical Science, Isfahan, IranSearch for more papers by this authorMostafa Neshat Ghalibaf Bs, Corresponding Author Mostafa Neshat Ghalibaf Bs [email protected] orcid.org/0000-0002-6286-9380 Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran Correspondence to: Mostafa Neshat Ghalibaf, Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran; E-mail: [email protected]Search for more papers by this authorFatemeh Azizi Bs, Fatemeh Azizi Bs Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, IranSearch for more papers by this authorMaryam Davoodi Bs, Maryam Davoodi Bs Department of Neurosurgery, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, IranSearch for more papers by this authorSareh Asadi PhD, Sareh Asadi PhD NeuroBiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranSearch for more papers by this author Mehri Salari MD, Mehri Salari MD orcid.org/0000-0002-1675-681X Neurology Department, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Neurosurgery, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, IranSearch for more papers by this authorMasoud Etemadifar MD, Masoud Etemadifar MD Faculty of Medicine, Isfahan University of Medical Science, Isfahan, IranSearch for more papers by this authorMostafa Neshat Ghalibaf Bs, Corresponding Author Mostafa Neshat Ghalibaf Bs [email protected] orcid.org/0000-0002-6286-9380 Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran Correspondence to: Mostafa Neshat Ghalibaf, Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran; E-mail: [email protected]Search for more papers by this authorFatemeh Azizi Bs, Fatemeh Azizi Bs Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, IranSearch for more papers by this authorMaryam Davoodi Bs, Maryam Davoodi Bs Department of Neurosurgery, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, IranSearch for more papers by this authorSareh Asadi PhD, Sareh Asadi PhD NeuroBiology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IranSearch for more papers by this author First published: 16 February 2023 https://doi.org/10.1002/mdc3.13697Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 2013; 70(11): 1403– 1410. Available from:. https://pubmed.ncbi.nlm.nih.gov/24042580/. 2Haack TBB, Iuso A, Kremer LSS, Hartig M, Strom TMM, Meitinger T, et al. Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am J Hum Genet 2016; 99(3): 735– 743. 3Muto V, Flex E, Kupchinsky Z, et al. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology 2018; 91(4): E319– E330. 4Katsuragi Y, Ichimura Y, Komatsu M. p62/SQSTM1 functions as a signaling hub and an autophagy adaptor. FEBS J 2015; 282(24): 4672– 4678. Available from:. https://pubmed.ncbi.nlm.nih.gov/26432171/. 5Bartolome F, Esteras N, Martin-Requero A, Boutoleau-Bretonniere C, Vercelletto M, Gabelle A, et al. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Scientific Reports 2017; 7(1): 1– 14. Available from:. https://www.nature.com/articles/s41598-017-01678-4. 6Zúñiga-Ramírez C, de Oliveira LM, Kramis-Hollands M, Algarni M, Soto-Escageda A, Sáenz-Farret M, et al. Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations. Park Relat Disord 2019; 1(62): 192– 195. 7Akkari M, Kraoua I, Klaa H, Benrhouma H, ben Younes T, Rouissi A, et al. SQSTM1 mutation: Description of the first Tunisian case and literature review. Mol Genet Genomic Med 2020; 8(12):e1543. 8Vedartham V, Sundaram S, Nair SS, Ganapathy A, Mannan A, Menon R. Homozygous sequestosome 1 (SQSTM1) mutation: A rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy. Ophthalmic Genet 2019; 40(4): 376– 379. 9Kilic MA, Kipoglu O, Coskun O, et al. Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement. Brain Dev 2021; 43(10): 1039– 1043. Volume10, Issue5May 2023Pages 835-838 ReferencesRelatedInformation
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