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

Familial dysautonomia [DS:H01987]
Congenital pain insensitivity with anhidrosis [DS:H01836]
Hereditary sensory neuropathy (HSN)
Hereditary sensory neuropathy with spastic paraplegia [DS:H02380]

Verpoorten N, De Jonghe P, Timmerman V

Disease mechanisms in hereditary sensory and autonomic neuropathies.

Neurobiol Dis 21:247-55 (2006)
DOI:10.1016/j.nbd.2005.08.004

Auer-Grumbach M, Mauko B, Auer-Grumbach P, Pieber TR

Molecular genetics of hereditary sensory neuropathies.

Neuromolecular Med 8:147-58 (2006)
DOI:10.1385/NMM:8:1:147

Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

Am J Hum Genet 87:513-22 (2010)
DOI:10.1016/j.ajhg.2010.09.010

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Nat Genet 41:1179-81 (2009)
DOI:10.1038/ng.464

Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Am J Hum Genet 89:219-30 (2011)
DOI:10.1016/j.ajhg.2011.06.013

Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN, Gribble FM, Woods CG

An SCN9A channelopathy causes congenital inability to experience pain.

Nature 444:894-8 (2006)
DOI:10.1038/nature05413

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Ann Neurol 71:569-72 (2012)
DOI:10.1002/ana.23524

Woods CG, Babiker MO, Horrocks I, Tolmie J, Kurth I

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Eur J Hum Genet 23:561-3 (2015)
DOI:10.1038/ejhg.2014.166

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhuttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J

Transcriptional regulator PRDM12 is essential for human pain perception.

Nat Genet 47:803-8 (2015)
DOI:10.1038/ng.3308

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Am J Hum Genet 91:1065-72 (2012)
DOI:10.1016/j.ajhg.2012.09.015

Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhuttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Am J Hum Genet 88:99-105 (2011)
DOI:10.1016/j.ajhg.2010.12.003

Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Nat Genet 43:595-600 (2011)
DOI:10.1038/ng.830

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Brain 137:683-92 (2014)
DOI:10.1093/brain/awt357