TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. RentonEdoardo Errichiello, Magdalena Zoledziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco O. Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paolo Mandich, Gianluigi Mancardi, Paola Origone, Francesca L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D'Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Angelo Pirisi, Leslie D. Parish, Enzo Ortu

Research output: Contribution to journalArticle

Abstract

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.
Original languageEnglish
Pages (from-to)180.e1 - 180.e5
JournalNeurobiology of Aging
Volume43
DOIs
Publication statusPublished - Oct 18 2015

Fingerprint

Amyotrophic Lateral Sclerosis
Phosphotransferases
Mutation
Exons
Frontotemporal Dementia
Genes
Exome
Valine
Human Genome
Missense Mutation
Codon
Computer Simulation
Arginine
Genome

Keywords

  • Amyotrophic lateral sclerosis
  • Genetics
  • Sporadic
  • TBK1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Borghero, G., Pugliatti, M., Marrosu, F., Marrosu, M. G., Murru, M. R., Floris, G., ... Ortu, E. (2015). TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiology of Aging, 43, 180.e1 - 180.e5. https://doi.org/10.1016/j.neurobiolaging.2016.03.028

TBK1 is associated with ALS and ALS-FTD in Sardinian patients. / Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Occhineri, Patrizia; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Gibbs, J. Raphael; Renton, Alan E.; Errichiello, Edoardo; Zoledziewska, Magdalena; Mulas, Antonella; Qian, Yong; Din, Jun; Pliner, Hannah A.; Traynor, Bryan J.; Chiò, Adriano; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Capasso, Margherita; Caponnetto, Claudia; Mandich, Paolo; Mancardi, Gianluigi; Origone, Paola; Conforti, Francesca L.; Vita, Giuseppe; Messina, Sonia; Russo, Massimo; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Lunetta, Christian; Penco, Silvana; Mosca, Lorena; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Tremolizzo, Lucio; Ferrarese, Carlo; Fini, Nicola; Fasano, Antonio; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Trojsi, Francesca; Piccirillo, Giovanni; Cristillo, Viviana; Mazzini, Letizia; D'Alfonso, Sandra; Bersano, Anna; Corrado, Lucia; Bagarotti, Alessandra; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Benigni, Michele; Restagno, Gabriella; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Tanel, Raffaella; Pisano, Fabrizio; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Pirisi, Angelo; Parish, Leslie D.; Ortu, Enzo.

In: Neurobiology of Aging, Vol. 43, 18.10.2015, p. 180.e1 - 180.e5.

Research output: Contribution to journalArticle

Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, MG, Murru, MR, Floris, G, Cannas, A, Occhineri, P, Cau, TB, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Gibbs, JR, Renton, AE, Errichiello, E, Zoledziewska, M, Mulas, A, Qian, Y, Din, J, Pliner, HA, Traynor, BJ, Chiò, A, Logullo, FO, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mandich, P, Mancardi, G, Origone, P, Conforti, FL, Vita, G, Messina, S, Russo, M, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Pinter, GL, Corbo, M, Riva, N, Carrera, P, Volanti, P, Tremolizzo, L, Ferrarese, C, Fini, N, Fasano, A, Monsurrò, MR, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Mazzini, L, D'Alfonso, S, Bersano, A, Corrado, L, Bagarotti, A, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Parish, LD & Ortu, E 2015, 'TBK1 is associated with ALS and ALS-FTD in Sardinian patients', Neurobiology of Aging, vol. 43, pp. 180.e1 - 180.e5. https://doi.org/10.1016/j.neurobiolaging.2016.03.028
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G et al. TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiology of Aging. 2015 Oct 18;43:180.e1 - 180.e5. https://doi.org/10.1016/j.neurobiolaging.2016.03.028
Borghero, Giuseppe ; Pugliatti, Maura ; Marrosu, Francesco ; Marrosu, Maria Giovanna ; Murru, Maria Rita ; Floris, Gianluca ; Cannas, Antonino ; Occhineri, Patrizia ; Cau, Tea B. ; Loi, Daniela ; Ticca, Anna ; Traccis, Sebastiano ; Manera, Umberto ; Canosa, Antonio ; Moglia, Cristina ; Calvo, Andrea ; Barberis, Marco ; Brunetti, Maura ; Gibbs, J. Raphael ; Renton, Alan E. ; Errichiello, Edoardo ; Zoledziewska, Magdalena ; Mulas, Antonella ; Qian, Yong ; Din, Jun ; Pliner, Hannah A. ; Traynor, Bryan J. ; Chiò, Adriano ; Logullo, Francesco O. ; Simone, Isabella ; Logroscino, Giancarlo ; Salvi, Fabrizio ; Bartolomei, Ilaria ; Capasso, Margherita ; Caponnetto, Claudia ; Mandich, Paolo ; Mancardi, Gianluigi ; Origone, Paola ; Conforti, Francesca L. ; Vita, Giuseppe ; Messina, Sonia ; Russo, Massimo ; Mora, Gabriele ; Marinou, Kalliopi ; Sideri, Riccardo ; Lunetta, Christian ; Penco, Silvana ; Mosca, Lorena ; Pinter, Giuseppe Lauria ; Corbo, Massimo ; Riva, Nilo ; Carrera, Paola ; Volanti, Paolo ; Tremolizzo, Lucio ; Ferrarese, Carlo ; Fini, Nicola ; Fasano, Antonio ; Monsurrò, Maria Rosaria ; Tedeschi, Gioacchino ; Trojsi, Francesca ; Piccirillo, Giovanni ; Cristillo, Viviana ; Mazzini, Letizia ; D'Alfonso, Sandra ; Bersano, Anna ; Corrado, Lucia ; Bagarotti, Alessandra ; La Bella, Vincenzo ; Spataro, Rossella ; Colletti, Tiziana ; Sabatelli, Mario ; Zollino, Marcella ; Conte, Amelia ; Luigetti, Marco ; Lattante, Serena ; Marangi, Giuseppe ; Santarelli, Marialuisa ; Petrucci, Antonio ; Giannini, Fabio ; Battistini, Stefania ; Ricci, Claudia ; Benigni, Michele ; Restagno, Gabriella ; Casale, Federico ; Marrali, Giuseppe ; Fuda, Giuseppe ; Ossola, Irene ; Cammarosano, Stefania ; Ilardi, Antonio ; Bertuzzo, Davide ; Tanel, Raffaella ; Pisano, Fabrizio ; Costantino, Emanuela ; Pani, Carla ; Puddu, Roberta ; Caredda, Carla ; Piras, Valeria ; Tranquilli, Stefania ; Cuccu, Stefania ; Corongiu, Daniela ; Melis, Maurizio ; Milia, Antonio ; Pirisi, Angelo ; Parish, Leslie D. ; Ortu, Enzo. / TBK1 is associated with ALS and ALS-FTD in Sardinian patients. In: Neurobiology of Aging. 2015 ; Vol. 43. pp. 180.e1 - 180.e5.
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abstract = "Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6{\%}) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6{\%} of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.",
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T1 - TBK1 is associated with ALS and ALS-FTD in Sardinian patients

AU - Borghero, Giuseppe

AU - Pugliatti, Maura

AU - Marrosu, Francesco

AU - Marrosu, Maria Giovanna

AU - Murru, Maria Rita

AU - Floris, Gianluca

AU - Cannas, Antonino

AU - Occhineri, Patrizia

AU - Cau, Tea B.

AU - Loi, Daniela

AU - Ticca, Anna

AU - Traccis, Sebastiano

AU - Manera, Umberto

AU - Canosa, Antonio

AU - Moglia, Cristina

AU - Calvo, Andrea

AU - Barberis, Marco

AU - Brunetti, Maura

AU - Gibbs, J. Raphael

AU - Renton, Alan E.

AU - Errichiello, Edoardo

AU - Zoledziewska, Magdalena

AU - Mulas, Antonella

AU - Qian, Yong

AU - Din, Jun

AU - Pliner, Hannah A.

AU - Traynor, Bryan J.

AU - Chiò, Adriano

AU - Logullo, Francesco O.

AU - Simone, Isabella

AU - Logroscino, Giancarlo

AU - Salvi, Fabrizio

AU - Bartolomei, Ilaria

AU - Capasso, Margherita

AU - Caponnetto, Claudia

AU - Mandich, Paolo

AU - Mancardi, Gianluigi

AU - Origone, Paola

AU - Conforti, Francesca L.

AU - Vita, Giuseppe

AU - Messina, Sonia

AU - Russo, Massimo

AU - Mora, Gabriele

AU - Marinou, Kalliopi

AU - Sideri, Riccardo

AU - Lunetta, Christian

AU - Penco, Silvana

AU - Mosca, Lorena

AU - Pinter, Giuseppe Lauria

AU - Corbo, Massimo

AU - Riva, Nilo

AU - Carrera, Paola

AU - Volanti, Paolo

AU - Tremolizzo, Lucio

AU - Ferrarese, Carlo

AU - Fini, Nicola

AU - Fasano, Antonio

AU - Monsurrò, Maria Rosaria

AU - Tedeschi, Gioacchino

AU - Trojsi, Francesca

AU - Piccirillo, Giovanni

AU - Cristillo, Viviana

AU - Mazzini, Letizia

AU - D'Alfonso, Sandra

AU - Bersano, Anna

AU - Corrado, Lucia

AU - Bagarotti, Alessandra

AU - La Bella, Vincenzo

AU - Spataro, Rossella

AU - Colletti, Tiziana

AU - Sabatelli, Mario

AU - Zollino, Marcella

AU - Conte, Amelia

AU - Luigetti, Marco

AU - Lattante, Serena

AU - Marangi, Giuseppe

AU - Santarelli, Marialuisa

AU - Petrucci, Antonio

AU - Giannini, Fabio

AU - Battistini, Stefania

AU - Ricci, Claudia

AU - Benigni, Michele

AU - Restagno, Gabriella

AU - Casale, Federico

AU - Marrali, Giuseppe

AU - Fuda, Giuseppe

AU - Ossola, Irene

AU - Cammarosano, Stefania

AU - Ilardi, Antonio

AU - Bertuzzo, Davide

AU - Tanel, Raffaella

AU - Pisano, Fabrizio

AU - Costantino, Emanuela

AU - Pani, Carla

AU - Puddu, Roberta

AU - Caredda, Carla

AU - Piras, Valeria

AU - Tranquilli, Stefania

AU - Cuccu, Stefania

AU - Corongiu, Daniela

AU - Melis, Maurizio

AU - Milia, Antonio

AU - Pirisi, Angelo

AU - Parish, Leslie D.

AU - Ortu, Enzo

PY - 2015/10/18

Y1 - 2015/10/18

N2 - Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.

AB - Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.

KW - Amyotrophic lateral sclerosis

KW - Genetics

KW - Sporadic

KW - TBK1

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U2 - 10.1016/j.neurobiolaging.2016.03.028

DO - 10.1016/j.neurobiolaging.2016.03.028

M3 - Article

VL - 43

SP - 180.e1 - 180.e5

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -