Axonal motor polyneuropathy in a 13 years old Girl with a variant in

Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S (2020) Episignatures stratifying Helsmoortel-Van der Aa syndrome show modest correlation with phenotype. Am J Hum Genet 107(3):555–563. https://doi.org/10.1016/j.ajhg.2020.07.003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mandel S, Gozes I (2007) Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem 282(47):34448–34456. https://doi.org/10.1074/jbc.M704756200

Article  CAS  PubMed  Google Scholar 

Sun X, Yu W, Li L, Sun Y (2020) ADNP controls gene expression through local chromatin architecture by association with BRG1 and CHD4. Front Cell Dev Biol 8:553. https://doi.org/10.3389/fcell.2020.00553

Article  PubMed  PubMed Central  Google Scholar 

Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE (2014) Van der Aa N. A SWI/SNF-related autism syndrome caused by de Novo mutations in ADNP. Nat Genet 46(4):380–384. https://doi.org/10.1038/ng.2899

Article  CAS  PubMed  PubMed Central  Google Scholar 

Georget M, Lejeune E, Buratti J, Servant E, le Guern E, Heron D, Keren B, de Sainte Agathe JM (2023) Loss of function of ADNP by an intragenic inversion. Eur J Hum Genet 31(8):967–970. https://doi.org/10.1038/s41431-023-01323-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF (2019) Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biol Psychiatry 85(4):287–297. https://doi.org/10.1016/j.biopsych.2018.02.1173

Article  PubMed  Google Scholar 

Van Dijck A, Vandeweyer G, Kooy F, ADNP-Related Disorder (2016) Apr 7 [updated 2022 Oct 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF (2019) Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biol Psychiatry 85(4):287–297. https://doi.org/10.1016/j.biopsych.2018.02.1173Epub 2018 Mar 15

Article  PubMed  Google Scholar 

Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S (2017) Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Transl Psychiatry.;7(2):e1043. https://doi.org/10.1038/tp.2017.27. Erratum in: Transl Psychiatry. 2017;7(7):e1166. doi: 10.1038/tp.2017.128

Thippeswamy T, Howard MR, Cosgrave AS, Arora DK, McKay JS, Quinn JP (2007) Nitric oxide-NGF mediated PPTA/SP, ADNP, and VIP expression in the peripheral nervous system. J Mol Neurosci 33(3):268–277. https://doi.org/10.1007/s12031-007-0066-8

Article  CAS  PubMed  Google Scholar 

Bennison SA, Blazejewski SM, Liu X, Hacohen-Kleiman G, Sragovich S, Zoidou S, Touloumi O, Grigoriadis N, Gozes I, Toyo-Oka K (2023) The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling. Mol Psychiatry 28(5):1946–1959. https://doi.org/10.1038/s41380-022-01939-3

Article  CAS  PubMed  Google Scholar 

Magen I, Gozes I (2013) Microtubule-stabilizing peptides and small molecules protecting axonal transport and brain function: focus on davunetide (NAP). Neuropeptides 47(6):489–495. https://doi.org/10.1016/j.npep.2013.10.011

Article  CAS  PubMed  Google Scholar 

Amram N, Hacohen-Kleiman G, Sragovich S, Malishkevich A, Katz J, Touloumi O, Lagoudaki R, Grigoriadis NC, Giladi E, Yeheskel A, Pasmanik-Chor M, Jouroukhin Y, Gozes I (2016) Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory. Mol Psychiatry 21(10):1467–1476. https://doi.org/10.1038/mp.2015.208

Article  CAS  PubMed  Google Scholar 

Swain SM, Arezzo JC (2008) Neuropathy associated with microtubule inhibitors: diagnosis, incidence, and management. Clin Adv Hematol Oncol 6(6):455–467

PubMed  Google Scholar 

Ertürk A, Mauch CP, Hellal F, Förstner F, Keck T, Becker K, Jährling N, Steffens H, Richter M, Hübener M, Kramer E, Kirchhoff F, Dodt HU, Bradke F (2011) Three-dimensional imaging of the unsectioned adult spinal cord to assess axon regeneration and glial responses after injury. Nat Med 18(1):166–171. https://doi.org/10.1038/nm.2600

Article  CAS  PubMed  Google Scholar 

Hellal F, Hurtado A, Ruschel J, Flynn KC, Laskowski CJ, Umlauf M, Kapitein LC, Strikis D, Lemmon V, Bixby J, Hoogenraad CC, Bradke F (2011) Microtubule stabilization reduces scarring and causes axon regeneration after spinal cord injury. Science 331(6019):928–931. https://doi.org/10.1126/science.1201148Epub 2011 Jan 27

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sengottuvel V, Leibinger M, Pfreimer M, Andreadaki A, Fischer D (2011) Taxol facilitates axon regeneration in the mature CNS. J Neurosci 31(7):2688–2699. https://doi.org/10.1523/JNEUROSCI.4885-10.2011

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ertürk A, Hellal F, Enes J, Bradke F (2007) Disorganized microtubules underlie the formation of Retraction bulbs and the failure of axonal regeneration. J Neurosci 27(34):9169–9180. https://doi.org/10.1523/JNEUROSCI.0612-07.2007

Article  CAS  PubMed  PubMed Central  Google Scholar 

Penazzi L, Bakota L, Brandt R (2016) Microtubule dynamics in neuronal development, plasticity, and neurodegeneration. Int Rev Cell Mol Biol 321:89–169. https://doi.org/10.1016/bs.ircmb.2015.09.004

Article  CAS  PubMed  Google Scholar 

Chen L (2018) Microtubules and axon regeneration in C. elegans. Mol Cell Neurosci 91:160–166. https://doi.org/10.1016/j.mcn.2018.03.007

Article  CAS  PubMed  Google Scholar 

Berth SH, Lloyd TE (2023) Disruption of axonal transport in neurodegeneration. J Clin Invest 133(11):e168554. https://doi.org/10.1172/JCI168554

Article  CAS  PubMed  PubMed Central  Google Scholar 

Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH, Undiagnosed D, Bademci N, Tekin G (2024 Dec) Undiagnosed diseases network NIH. KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. J Med Genet 11:jmg–2024. https://doi.org/10.1136/jmg-2024-109908

Puri D, Barry BJ, Engle EC (2023) TUBB3 and KIF21A in neurodevelopment and disease. Front Neurosci 17:1226181. https://doi.org/10.3389/fnins.2023.1226181

Article  PubMed  PubMed Central  Google Scholar 

Reilly MM (2005) Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! Neurology 65(2):186–187. https://doi.org/10.1212/01.wnl.0000173904.97549.94

Article  PubMed  Google Scholar 

Nagappa M, Sharma S, Taly AB, Charcot-Marie-Tooth D (2024) Jun 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan&#8211

Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L, Undiagnosed D, Millan N, Santiago-Sim F, Thevenon T, Bruel J, Thauvin-Robinet AL, Popp C, Platzer D, Gawlinski K, Wiszniewski P, Marafi W, Pehlivan D, Posey D, Gibbs JE, Gailus-Durner RA, Guerrini V, Fuchs R, Hrabě H, de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR (2023) Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet 110(8):1394–1413. https://doi.org/10.1016/j.ajhg.2023.06.013

Article  CAS  PubMed  PubMed Central  Google Scholar 

Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN (2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med 27(1):101273. https://doi.org/10.1016/j.gim.2024.101273

Article  CAS  PubMed 

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