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  • 1. Mueller, Kathrin
    et al.
    Brenner, David
    Weydt, Patrick
    Meyer, Thomas
    Grehl, Torsten
    Petri, Susanne
    Grosskreutz, Julian
    Schuster, Joachim
    Volk, Alexander E.
    Borck, Guntram
    Kubisch, Christian
    Klopstock, Thomas
    Zeller, Daniel
    Jablonka, Sibylle
    Sendtner, Michael
    Klebe, Stephan
    Knehr, Antje
    Guenther, Kornelia
    Weis, Joachim
    Claeys, Kristl G.
    Schrank, Berthold
    Sperfeld, Anne-Dorte
    Huebers, Annemarie
    Otto, Markus
    Dorst, Johannes
    Meitinger, Thomas
    Strom, Tim M.
    Andersen, Peter M.
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience. Department of Neurology, Ulm University, Ulm, Germany.
    Ludolph, Albert C.
    Weishaupt, Jochen H.
    Comprehensive analysis of the mutation spectrum in 301 German ALS families2018In: Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, E-ISSN 1468-330X, Vol. 89, no 8, p. 817-827Article in journal (Refereed)
    Abstract [en]

    Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions.

    Methods Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome sequencing to obtain a comprehensive profile of genetic variants in ALS disease genes in 301 German pedigrees with familial ALS. We report C9orf72 mutations as well as variants in consensus splice sites and non-synonymous variants in protein-coding regions of ALS genes. We furthermore estimate their pathogenicity by taking into account type and frequency of the respective variant as well as segregation within the families.

    Results 49% of our German ALS families carried a likely pathogenic variant in at least one of the earlier identified ALS genes. In 45% of the ALS families, likely pathogenic variants were detected in C9orf72, SOD1, FUS, TARDBP or TBK1, whereas the relative contribution of the other ALS genes in this familial ALS cohort was 4%. We identified several previously unreported rare variants and demonstrated the absence of likely pathogenic variants in some of the recently described ALS disease genes.

    Conclusions We here present a comprehensive genetic characterisation of German familial ALS. The present findings are of importance for genetic counselling in clinical practice, for molecular research and for the design of diagnostic gene panels or genotype-specific therapeutic interventions in Europe.

  • 2. Oeckl, Patrick
    et al.
    Jardel, Claude
    Salachas, Francois
    Lamari, Foudil
    Andersen, Peter M.
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Bowser, Robert
    de Carvalho, Mamede
    Costa, Julia
    van Damme, Philip
    Gray, Elizabeth
    Grosskreutz, Julian
    Hernandez-Barral, Maria
    Herukka, Sanna-Kaisa
    Huss, Andre
    Jeromin, Andreas
    Kirby, Janine
    Kuzma-Kozakiewicz, Magdalena
    Amador, Maria del Mar
    Mora, Jesus S.
    Morelli, Claudia
    Muckova, Petra
    Petri, Susanne
    Poesen, Koen
    Rhode, Heidrun
    Rikardsson, Anna-Karin
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Robberecht, Wim
    Rodriguez Mahillo, Ana I.
    Shaw, Pamela
    Silani, Vincenzo
    Steinacker, Petra
    Turner, Martin R.
    Tuzun, Erdem
    Yetimler, Berrak
    Ludolph, Albert C.
    Otto, Markus
    Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS2016In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, E-ISSN 2167-9223, Vol. 17, no 5-6, p. 404-413Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: Neurofilaments are leading neurochemical biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigated the effect of preanalytical factors on neurofilament concentrations in cerebrospinal fluid (CSF) in a reverse round-robin with 15 centers across Europe/U.S. METHODS: Samples from ALS and control patients (5/5 each center, n=150) were analyzed for phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) at two laboratories. RESULTS: CSF pNfH was increased (p<0.05) in ALS in 10 out of 15 centers and NfL in 5 out of 12 centers. The coefficient of variation (CV%) of pNfH measurements between laboratories was 18.7 +/- 19.1%. We calculated a diagnostic cut-off of >568.5pg/mL for pNfH (sensitivity 78.7%, specificity 93.3%) and >1,431pg/mL for NfL (sensitivity 79.0%, specificity 86.4%). CONCLUSION: Values in ALS patients are already comparable between most centers, supporting eventual implementation into clinical routine. However, continuous quality control programs will be necessary for inclusion in the diagnostic work-up.

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