Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
Amyotrophic lateral sclerosis and Parkinsonism-dementia complex (ALSPDC)

Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z, van den Berg LH

Amyotrophic lateral sclerosis.

Nat Rev Dis Primers 3:17071 (2017)
DOI:10.1038/nrdp.2017.71

Yamashita S, Ando Y

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Transl Neurodegener 4:13 (2015)
DOI:10.1186/s40035-015-0036-y

Valentine JS, Doucette PA, Zittin Potter S

Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis.

Annu Rev Biochem 74:563-93 (2005)
DOI:10.1146/annurev.biochem.72.121801.161647

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Am J Hum Genet 74:1128-35 (2004)
DOI:10.1086/421054

Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Science 323:1208-11 (2009)
DOI:10.1126/science.1165942

Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

Nat Genet 38:411-3 (2006)
DOI:10.1038/ng1742

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

PLoS Genet 4:e1000193 (2008)
DOI:10.1371/journal.pgen.1000193

Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Am J Hum Genet 84:85-8 (2009)
DOI:10.1016/j.ajhg.2008.12.010

Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H

Mutations of optineurin in amyotrophic lateral sclerosis.

Nature 465:223-6 (2010)
DOI:10.1038/nature08971

Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL

Genetics of amyotrophic lateral sclerosis: A review.

J Neurol Sci 399:217-226 (2019)
DOI:10.1016/j.jns.2019.02.030

Brenner D, Muller K, Wieland T, Weydt P, Bohm S, Lule D, Hubers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH

NEK1 mutations in familial amyotrophic lateral sclerosis.

Brain 139:e28 (2016)
DOI:10.1093/brain/aww033

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L, Moreno CAM, Kamalakaran S, Goldstein DB, Gitler AD, Harris T, Myers RM, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Soraru G, Cereda C, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Munoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Perez J, Garcia-Redondo A, Al-Chalabi A, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chio A, Shaw CE, Traynor BJ, Landers JE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Neuron 97:1268-1283.e6 (2018)
DOI:10.1016/j.neuron.2018.02.027

Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Zuchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Neuron 95:808-816.e9 (2017)
DOI:10.1016/j.neuron.2017.07.025

Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuss A, Kolbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Topf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Hoke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bonnemann CG

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nat Med 27:1197-1204 (2021)
DOI:10.1038/s41591-021-01346-1

Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Am J Hum Genet 110:1086-1097 (2023)
DOI:10.1016/j.ajhg.2023.05.014

Hermosura MC, Nayakanti H, Dorovkov MV, Calderon FR, Ryazanov AG, Haymer DS, Garruto RM

A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders.

Proc Natl Acad Sci U S A 102:11510-5 (2005)
DOI:10.1073/pnas.0505149102

Sundar PD, Yu CE, Sieh W, Steinbart E, Garruto RM, Oyanagi K, Craig UK, Bird TD, Wijsman EM, Galasko DR, Schellenberg GD

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.

Hum Mol Genet 16:295-306 (2007)
DOI:10.1093/hmg/ddl463

Hata Y, Ma N, Yoneda M, Morimoto S, Okano H, Murayama S, Kawanishi S, Kuzuhara S, Kokubo Y

Nitrative Stress and Tau Accumulation in Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex (ALS/PDC) in the Kii Peninsula, Japan.

Front Neurosci 11:751 (2017)
DOI:10.3389/fnins.2017.00751

Peroneal muscular atrophy
Dejerine-Sottas disease [DS:H02359]
Cowchock syndrome [DS:H02344]
Hereditary motor and sensory neuropathy, Okinawa type (HMSNO)

Bertorini T, Narayanaswami P, Rashed H

Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.

Neurologist 10:327-37 (2004)
DOI:10.1097/01.nrl.0000145596.38640.27

Bird TD

Charcot-Marie-Tooth Hereditary Neuropathy Overview

GeneReviews (1993)

Young P, Suter U

The causes of Charcot-Marie-Tooth disease.

Cell Mol Life Sci 60:2547-60 (2003)
DOI:10.1007/s00018-003-3133-5

Niemann A, Berger P, Suter U

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Neuromolecular Med 8:217-42 (2006)
DOI:10.1385/NMM:8:1:217

Wei N, Zhang Q, Yang XL

Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

J Biol Chem 294:5321-5339 (2019)
DOI:10.1074/jbc.REV118.002955

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Am J Hum Genet 102:505-514 (2018)
DOI:10.1016/j.ajhg.2018.01.023

Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

Neuromuscul Disord 22:587-91 (2012)
DOI:10.1016/j.nmd.2012.03.006

Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Brain 144:1197-1213 (2021)
DOI:10.1093/brain/awab019

Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Holker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.

Am J Hum Genet 107:763-777 (2020)
DOI:10.1016/j.ajhg.2020.08.018

Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

J Clin Invest 130:1506-1512 (2020)
DOI:10.1172/JCI128152

Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

N Engl J Med 362:1181-91 (2010)
DOI:10.1056/NEJMoa0908094

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Am J Hum Genet 89:308-12 (2011)
DOI:10.1016/j.ajhg.2011.07.002

Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

PLoS Genet 6:e1001081 (2010)
DOI:10.1371/journal.pgen.1001081

Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Am J Hum Genet 91:1088-94 (2012)
DOI:10.1016/j.ajhg.2012.09.018

Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.

Hum Mol Genet 22:2975-83 (2013)
DOI:10.1093/hmg/ddt149

Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzinska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 95:590-601 (2014)
DOI:10.1016/j.ajhg.2014.10.002

Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Ann Neurol 79:659-72 (2016)
DOI:10.1002/ana.24612

Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Zuchner S

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

J Neurol Neurosurg Psychiatry 84:1247-9 (2013)
DOI:10.1136/jnnp-2013-305049

Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Brain 137:2897-902 (2014)
DOI:10.1093/brain/awu224

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Ann Neurol 79:419-27 (2016)
DOI:10.1002/ana.24575

Alazami AM, Alzahrani F, Bohlega S, Alkuraya FS

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.

Neurology 82:1665-6 (2014)
DOI:10.1212/WNL.0000000000000331

Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Eur J Hum Genet 17:1606-14 (2009)
DOI:10.1038/ejhg.2009.99

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Am J Hum Genet 81:1-16 (2007)
DOI:10.1086/518428

Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

PLoS Genet 7:e1002104 (2011)
DOI:10.1371/journal.pgen.1002104

Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayencon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology 81:1523-30 (2013)
DOI:10.1212/WNL.0b013e3182a4a518

Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA

SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.

EMBO Mol Med 8:1019-38 (2016)
DOI:10.15252/emmm.201506159

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botia JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Ann Neurol 86:225-240 (2019)
DOI:10.1002/ana.25524

Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

Hum Mol Genet 22:1404-16 (2013)
DOI:10.1093/hmg/dds557

Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tete MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

N Engl J Med 365:2377-88 (2011)
DOI:10.1056/NEJMoa1109122

Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.

Am J Hum Genet 92:422-30 (2013)
DOI:10.1016/j.ajhg.2013.01.014

Azzedine H, Zavadakova P, Plante-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Medard JJ, Makowski E, Schols L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

Hum Mol Genet 22:4224-32 (2013)
DOI:10.1093/hmg/ddt274

Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

Am J Hum Genet 95:294-300 (2014)
DOI:10.1016/j.ajhg.2014.07.013

Auer-Grumbach M, Weger M, Fink-Puches R, Papic L, Frohlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhuttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

Brain 134:1839-52 (2011)
DOI:10.1093/brain/awr076

Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.

Am J Hum Genet 108:186-193 (2021)
DOI:10.1016/j.ajhg.2020.12.002

Schabhuttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

J Neurol 261:970-82 (2014)
DOI:10.1007/s00415-014-7289-8

Tetreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.

Brain 138:1477-83 (2015)
DOI:10.1093/brain/awv074

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

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Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA)
Polymicrogyria with or without vascular-type EDS (PMGEDSV)

Neuronal migration disorder [DS:H01835]

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