Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET
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Published:2022-07-05
Issue:4
Volume:23
Page:241-255
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ISSN:1364-6753
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Container-title:neurogenetics
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language:en
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Short-container-title:Neurogenetics
Author:
Hocquel ArmandORCID, Ravel Jean-Marie, Lambert Laetitia, Bonnet Céline, Banneau Guillaume, Kol Bophara, Tissier Laurène, Hopes Lucie, Meyer Mylène, Dillier Céline, Michaud Maud, Lardin Arnaud, Kaminsky Anne-Laure, Schmitt Emmanuelle, Liao Liang, Zhu François, Myriam Bronner, Bossenmeyer-Pourié Carine, Verger Antoine, Renaud Mathilde
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Reference61 articles.
1. Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18:1136–1146. https://doi.org/10.1016/S1474-4422(19)30235-2 2. FaraziFard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido M-J, Jordanova A, Schüle R, Zuchner S, Faghihi MA (2019) Truncating mutations in UBAP1 Cause hereditary spastic paraplegia. Am J Human Genet 104:767–773. https://doi.org/10.1016/j.ajhg.2019.03.001 3. Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH (2017) A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain 140:547–554. https://doi.org/10.1093/brain/aww318 4. Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC, Study DDD, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S (2019) Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142:3382–3397. https://doi.org/10.1093/brain/awz291 5. Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC-H, Chiang D, Bolduc F, Tafakhori A, Mane S, GhasemiFirouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang Z-Q, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB (2020) Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am J Human Genet 107:364–373. https://doi.org/10.1016/j.ajhg.2020.06.015
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