Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management

被引：18
作者：
Roggenbuck, Jennifer [1 ]
Fong, Jamie C. [2 ]
机构：
[1] Ohio State Univ, Dept Neurol, Div Human Genet, 2012 Kenny Rd, Columbus, OH 43221 USA
[2] Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza,MS BCM115, Houston, TX 77030 USA
来源：
CLINICS IN LABORATORY MEDICINE | 2020年 / 40卷 / 03期
关键词：
ALS; FTD; C9orf72; Genetic testing; Genetic counseling; MOTOR-NEURON DISEASE; LOBAR DEGENERATION; SQSTM1; MUTATIONS; HEXANUCLEOTIDE REPEAT; SUPEROXIDE-DISMUTASE; FAMILIAL DEMENTIA; ALZHEIMER-DISEASE; TARDBP MUTATIONS; PAGET-DISEASE; ALS;
D O I：
10.1016/j.cll.2020.05.002
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are devastating neurodegenerative disorders that share clinical, pathologic, and genetic features. Persons and families affected by these conditions frequently question why they developed the disease, the expected disease course, treatment options, and the likelihood that family members will be affected. Genetic testing has the potential to answers these important questions. Despite the progress in gene discovery, the offer of genetic testing is not yet "standard of care" in ALS and FTD clinics. The authors review the current genetic landscape and present recommendations for the laboratory genetic evaluation of persons with these conditions.y
引用
收藏
页码：271 / +
页数：19
相关论文
共 97 条
  • [1] Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial
    Abe, Koji
    Aoki, Masashi
    Tsuji, Shoji
    Itoyama, Yasuto
    Sobue, Gen
    Togo, Masanori
    Hamada, Chikuma
    Tanaka, Masahiko
    Akimoto, Makoto
    Nakamura, Kazue
    Takahashi, Fumihiro
    Kondo, Kazuoki
    Yoshino, Hiide
    [J]. LANCET NEUROLOGY, 2017, 16 (07) : 505 - 512
  • [2] A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
    Akimoto, Chizuru
    Volk, Alexander E.
    van Blitterswijk, Marka
    Van den Broeck, Marleen
    Leblond, Claire S.
    Lumbroso, Serge
    Camu, William
    Neitzel, Birgit
    Onodera, Osamu
    van Rheenen, Wouter
    Pinto, Susana
    Weber, Markus
    Smith, Bradley
    Proven, Melanie
    Talbot, Kevin
    Keagle, Pamela
    Chesi, Alessandra
    Ratti, Antonia
    van der Zee, Julie
    Alstermark, Helena
    Birve, Anna
    Calini, Daniela
    Nordin, Angelica
    Tradowsky, Daniela C.
    Just, Walter
    Daoud, Hussein
    Angerbauer, Sabrina
    DeJesus-Hernandez, Mariely
    Konno, Takuya
    Lloyd-Jani, Anjali
    de Carvalho, Mamede
    Mouzat, Kevin
    Landers, John E.
    Veldink, Jan H.
    Silani, Vincenzo
    Gitler, Aaron D.
    Shaw, Christopher E.
    Rouleau, Guy A.
    van den Berg, Leonard H.
    Van Broeckhoven, Christine
    Rademakers, Rosa
    Andersen, Peter M.
    Kubisch, Christian
    [J]. JOURNAL OF MEDICAL GENETICS, 2014, 51 (06) : 419 - 424
  • [3] p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    Al-Sarraj, Safa
    King, Andrew
    Troakes, Claire
    Smith, Bradley
    Maekawa, Satomi
    Bodi, Istvan
    Rogelj, Boris
    Al-Chalabi, Ammar
    Hortobagyi, Tibor
    Shaw, Christopher E.
    [J]. ACTA NEUROPATHOLOGICA, 2011, 122 (06) : 691 - 702
  • [4] Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients
    Alavi, Afagh
    Nafissi, Shahriar
    Rohani, Mohammad
    Zamani, Babak
    Sedighi, Behnaz
    Shamshiri, Hosein
    Fan, Jian-Bing
    Ronaghi, Mostafa
    Elahi, Elahe
    [J]. NEUROBIOLOGY OF AGING, 2013, 34 (05) : 1516.e1 - 1516.e8
  • [5] A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
    Beck, Jonathan
    Rohrer, Jonathan D.
    Campbell, Tracy
    Isaacs, Adrian
    Morrison, Karen E.
    Goodall, Emily F.
    Warrington, Elizabeth K.
    Stevens, John
    Revesz, Tamas
    Holton, Janice
    Al-Sarraj, Safa
    King, Andrew
    Scahill, Rachael
    Warren, Jason D.
    Fox, Nick C.
    Rossor, Martin N.
    Collinge, John
    Mead, Simon
    [J]. BRAIN, 2008, 131 : 706 - 720
  • [6] TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration
    Benajiba, Lina
    Le Ber, Isabelle
    Camuzat, Agnes
    Lacoste, Mathieu
    Thomas-Anterion, Catherine
    Couratier, Philippe
    Legallic, Solenn
    Salachas, Francois
    Hannequin, Didier
    Decousus, Marielle
    Lacomblez, Lucette
    Guedj, Eric
    Golfier, Veronique
    Camu, William
    Dubois, Bruno
    Campion, Dominique
    Meininger, Vincent
    Brice, Alexis
    [J]. ANNALS OF NEUROLOGY, 2009, 65 (04) : 470 - 474
  • [7] Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
    Benussi, Luisa
    Ghidoni, Roberta
    Pegoiani, Eleonora
    Moretti, Davide V.
    Zanetti, Orazio
    Binetti, Giuliano
    [J]. NEUROBIOLOGY OF DISEASE, 2009, 33 (03) : 379 - 385
  • [8] Amyotrophic Lateral Sclerosis, 2016: existing therapies and the ongoing search for neuroprotection
    Blasco, H.
    Patin, F.
    Andres, C. R.
    Corcia, P.
    Gordon, P. H.
    [J]. EXPERT OPINION ON PHARMACOTHERAPY, 2016, 17 (12) : 1669 - 1682
  • [9] Cognitive and behavioral features of c9FTD/ALS
    Boeve, Bradley F.
    Graff-Radford, Neill R.
    [J]. ALZHEIMERS RESEARCH & THERAPY, 2012, 4 (04):
  • [10] Mutation within TARDBP Leads to Frontotemporal Dementia without Motor Neuron Disease
    Borroni, B.
    Bonvicini, C.
    Alberici, A.
    Buratti, E.
    Agosti, C.
    Archetti, S.
    Papetti, A.
    Stuani, C.
    Di Luca, M.
    Gennarelli, M.
    Padovani, A.
    [J]. HUMAN MUTATION, 2009, 30 (11) : E974 - E983
12345678910