nach oben

Erschienen in:

07.03.2019 | Original Article

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

verfasst von: Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji

Erschienen in: Neurogenetics | Ausgabe 2/2019

Einloggen, um Zugang zu erhalten

Abstract

Intermediate-length CAG repeats in ATXN2 have been widely shown to be a risk factor for sporadic amyotrophic lateral sclerosis (SALS). To evaluate the association of ATXN2 intermediate-length CAG repeat alleles with an increased risk of SALS, we investigated distributions of CAG repeat alleles in 394 patients with SALS and 490 control individuals in the Japanese population. In the intermediate-length repeat units of 29 or more, we identified one SALS patient with 31 repeat units and two control individuals with 30 repeat units. Thus, no significant differences in the carrier frequency of intermediate-length CAG repeat alleles were detected between patients with SALS and control individuals. When we investigated the distribution of “large normal alleles” defined as ATXN2 CAG repeats ranging from 24 up to 33 in the Japanese population compared with those in other populations in previous studies, the frequency of large normal alleles was significantly higher in the European and North American series than in the Japanese series. Moreover, these frequencies in the Turkish, Chinese, Korean, and Brazilian (Latin American) series were also higher than that in the Japanese series. These results raise the possibility that the frequencies of large normal alleles in individual populations underlie the frequencies of ALS risk alleles in the corresponding populations.

Nur mit Berechtigung zugänglich

Taylor JP, Brown RH Jr, Cleveland DW (2016) Decoding ALS: from genes to mechanism. Nature 539(7628):197–206. https://doi.org/10.1038/nature20413 CrossRefPubMedPubMedCentral

White MA, Sreedharan J (2016) Amyotrophic lateral sclerosis: recent genetic highlights. Curr Opin Neurol 29(5):557–564. https://doi.org/10.1097/WCO.0000000000000367 CrossRefPubMed

Leblond CS, Kaneb HM, Dion PA, Rouleau GA (2014) Dissection of genetic factors associated with amyotrophic lateral sclerosis. Exp Neurol 262 Pt B:91–101. https://doi.org/10.1016/j.expneurol.2014.04.013 CrossRefPubMed

Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S (2018) Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation. Neurobiol Aging 61:255 e259–255 e216. https://doi.org/10.1016/j.neurobiolaging.2017.08.030 CrossRef

Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Tanaka M, Doi K, Yoshimura J, Morishita S, Goto J, Toda T, Tsuji S (2018) Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. J Neurol Neurosurg Psychiatry. https://doi.org/10.1136/jnnp-2018-318568

Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S (2008) Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch Neurol 65(10):1326–1332. https://doi.org/10.1001/archneur.65.10.1326 CrossRefPubMed

Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G, JaCals FJA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S (2013) ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet 93(5):900–905. https://doi.org/10.1016/j.ajhg.2013.09.008 CrossRefPubMedPubMedCentral

Naruse H, Iwata A, Takahashi Y, Ichihara K, Kamei S, Yamatoku M, Hirayama T, Suzuki N, Aoki M, Miyagawa T, Shimizu J, Tsuji S, Goto J (2013) Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course. Neurol Clin Neurosci 1(1):45–47. https://doi.org/10.1002/ncn3.8 CrossRef

Segawa M, Hoshi A, Naruse H, Kuroda M, Bujo H, Ugawa Y (2015) A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation. Rinsho Shinkeigaku 55(12):914–920. https://doi.org/10.5692/clinicalneurol.cn-000765 CrossRefPubMed

10.

Ishiura H, Takahashi Y, Mitsui J, Yoshida S, Kihira T, Kokubo Y, Kuzuhara S, Ranum LP, Tamaoki T, Ichikawa Y, Date H, Goto J, Tsuji S (2012) C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch Neurol 69(9):1154–1158. https://doi.org/10.1001/archneurol.2012.1219 CrossRefPubMed

11.

Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Consortium I, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. https://doi.org/10.1016/j.neuron.2011.09.010 CrossRefPubMedPubMedCentral

12.

Renton AE, Chio A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17(1):17–23. https://doi.org/10.1038/nn.3584 CrossRefPubMed

13.

Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, Zhu C, Yu F, Meng Y, Wang H, Zhang F, Ma H, Ye R, Cheng H, Du J, Dong W, Zhou S, Wang C, Wang Y, Wang J, Chen X, Sun Z, Zhou N, Jiang Y, Liu X, Li X, Zhang N, Liu N, Guan Y, Han Y, Han Y, Lv X, Fu Y, Yu H, Xi C, Xie D, Zhao Q, Xie P, Wang X, Zhang Z, Shen L, Cui Y, Yin X, Cheng H, Liang B, Zheng X, Lee TM, Chen G, Zhou F, Veldink JH, Robberecht W, Landers JE, Andersen PM, Al-Chalabi A, Shaw C, Liu C, Tang B, Xiao S, Robertson J, Zhang F, van den Berg LH, Sun L, Liu J, Yang S, Ju X, Wang K, Zhang X (2013) Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet 45(6):697–700. https://doi.org/10.1038/ng.2627 CrossRefPubMed

14.

Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, Tanaka T, Tsunoda T, Oshima S, Sano M, Kamei T, Tokuda T, Aoki M, Hasegawa K, Mizoguchi K, Morita M, Takahashi Y, Katsuno M, Atsuta N, Watanabe H, Tanaka F, Kaji R, Nakano I, Kamatani N, Tsuji S, Sobue G, Nakamura Y, Ikegawa S (2011) A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet 20(18):3684–3692. https://doi.org/10.1093/hmg/ddr268 CrossRefPubMed

15.

Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rub U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD (2010) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466(7310):1069–1075. https://doi.org/10.1038/nature09320 CrossRefPubMedPubMedCentral

16.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Soraru G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A (2017) ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging 51:178 e171–178 e179. https://doi.org/10.1016/j.neurobiolaging.2016.11.010 CrossRef

17.

Kim YE, Oh KW, Noh MY, Park J, Kim HJ, Park JE, Ki CS, Kim SH (2018) Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis. Neurobiol Aging 67:201 e205–201 e208. https://doi.org/10.1016/j.neurobiolaging.2018.03.019 CrossRef

18.

Tavares de Andrade HM, Cintra VP, de Albuquerque M, Piccinin CC, Bonadia LC, Duarte Couteiro RE, Sabino de Oliveira D, Claudino R, Magno Goncalves MV, Dourado MET Jr, de Souza LC, Teixeira AL, de Godoy Rousseff Prado L, Tumas V, Bulle Oliveira AS, Nucci A, Lopes-Cendes I, Marques W Jr, Franca MC Jr (2018) Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients. Neurobiol Aging 69:292.e15–292.e18. https://doi.org/10.1016/j.neurobiolaging.2018.04.020 CrossRef

19.

Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14(3):269–276. https://doi.org/10.1038/ng1196-269 CrossRefPubMed

20.

Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14(3):277–284. https://doi.org/10.1038/ng1196-277 CrossRefPubMed

21.

Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14(3):285–291. https://doi.org/10.1038/ng1196-285 CrossRefPubMed

22.

Brooks BR, Miller RG, Swash M, Munsat TL (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1(5):293–299CrossRefPubMed

23.

Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM (2014) Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. JAMA Neurol 71(12):1529–1534. https://doi.org/10.1001/jamaneurol.2014.2082 CrossRefPubMedPubMedCentral

24.

Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurro MR, Gambardella A, La Bella V (2012) Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 79(24):2315–2320. https://doi.org/10.1212/WNL.0b013e318278b618 CrossRefPubMed

25.

Corrado L, Mazzini L, Oggioni GD, Luciano B, Godi M, Brusco A, D’Alfonso S (2011) ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet 130(4):575–580. https://doi.org/10.1007/s00439-011-1000-2 CrossRefPubMed

26.

Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupre N, Dion PA, Rouleau GA (2011) Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 68(6):739–742. https://doi.org/10.1001/archneurol.2011.111 CrossRefPubMed

27.

Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C (2012) ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling. Neurobiol Aging 33(8):1847.e1815–1847.e1821. https://doi.org/10.1016/j.neurobiolaging.2012.02.004 CrossRef

28.

Gispert S, Kurz A, Waibel S, Bauer P, Liepelt I, Geisen C, Gitler AD, Becker T, Weber M, Berg D, Andersen PM, Kruger R, Riess O, Ludolph AC, Auburger G (2012) The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 45(1):356–361. https://doi.org/10.1016/j.nbd.2011.08.021 CrossRefPubMed

29.

Lattante S, Millecamps S, Stevanin G, Rivaud-Pechoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E (2014) Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology 83(11):990–995. https://doi.org/10.1212/wnl.0000000000000778 CrossRefPubMedPubMedCentral

30.

Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, de Carvalho M, Meyer T, Tysnes OB, Auburger G, Gispert S, Bonini NM, Andersen PM, Gitler AD (2011) Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 20(9):1697–1700. https://doi.org/10.1093/hmg/ddr045 CrossRefPubMedPubMedCentral

31.

Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R (2011) Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 20(16):3207–3212. https://doi.org/10.1093/hmg/ddr227 CrossRefPubMedPubMedCentral

32.

Soraru G, Clementi M, Forzan M, Orsetti V, D’Ascenzo C, Querin G, Palmieri A, Ermani M, Angelini C, Pegoraro E (2011) ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 76(23):2030–2031. https://doi.org/10.1212/WNL.0b013e31821e557a CrossRefPubMed

33.

Van Damme P, Veldink JH, van Blitterswijk M, Corveleyn A, van Vught PW, Thijs V, Dubois B, Matthijs G, van den Berg LH, Robberecht W (2011) Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76(24):2066–2072. https://doi.org/10.1212/WNL.0b013e31821f445b CrossRefPubMed

34.

Van Langenhove T, van der Zee J, Engelborghs S, Vandenberghe R, Santens P, Van den Broeck M, Mattheijssens M, Peeters K, Nuytten D, Cras P, De Deyn PP, De Jonghe P, Cruts M, Van Broeckhoven C (2012) Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging 33(5):1004.e1017–1004.e1020. https://doi.org/10.1016/j.neurobiolaging.2011.09.025 CrossRef

35.

Lahut S, Omur O, Uyan O, Agim ZS, Ozoguz A, Parman Y, Deymeer F, Oflazer P, Koc F, Ozcelik H, Auburger G, Basak AN (2012) ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PLoS One 7(8):e42956. https://doi.org/10.1371/journal.pone.0042956 CrossRefPubMedPubMedCentral

36.

Liu X, Lu M, Tang L, Zhang N, Chui D, Fan D (2013) ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 34(9):2236.e2235–2236.e2238. https://doi.org/10.1016/j.neurobiolaging.2013.04.009 CrossRef

37.

Lu HP, Gan SR, Chen S, Li HF, Liu ZJ, Ni W, Wang N, Wu ZY (2015) Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 36(3):1603.e1611–1603.e1604. https://doi.org/10.1016/j.neurobiolaging.2014.10.015 CrossRef

38.

Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP, Lee YC (2014) Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 35(10):2423.e2421–2423.e2426. https://doi.org/10.1016/j.neurobiolaging.2014.05.008 CrossRef

39.

Kanda Y (2013) Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics. Bone Marrow Transplant 48(3):452–458. https://doi.org/10.1038/bmt.2012.244 CrossRefPubMed

40.

Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Durr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S (1998) Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 63(4):1060–1066. https://doi.org/10.1086/302067 CrossRefPubMedPubMedCentral

41.

Kim JY, Park SS, Joo SI, Kim JM, Jeon BS (2001) Molecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7. Mol Cells 12(3):336–341PubMed

42.

Kim JS, Cho JW (2015) Hereditary cerebellar ataxias: a Korean perspective. J Mov Disord 8(2):67–75. https://doi.org/10.14802/jmd.15006 CrossRefPubMedPubMedCentral

43.

Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, Yang DK, Li C, Hsieh M (2004) Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand 109(5):355–360. https://doi.org/10.1046/j.1600-0404.2003.00229.x CrossRefPubMed

Titel: Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
verfasst von: Hiroya Naruse
Takashi Matsukawa
Hiroyuki Ishiura
Jun Mitsui
Yuji Takahashi
Hiroki Takano
Jun Goto
Tatsushi Toda
Shoji Tsuji
Publikationsdatum: 07.03.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 2/2019
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-019-00570-9

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

18.04.2024 | Arterielle Hypertonie | Nachrichten

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

Abstract

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 2/2019

Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie