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

页码：271 / +

页数：19

共 97 条

[1] Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial [J].

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 .

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 [J].

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 .

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 [J].

Al-Sarraj, Safa ;

King, Andrew ;

Troakes, Claire ;

Smith, Bradley ;

Maekawa, Satomi ;

Bodi, Istvan ;

Rogelj, Boris ;

Al-Chalabi, Ammar ;

Hortobagyi, Tibor ;

Shaw, Christopher E. .

ACTA NEUROPATHOLOGICA, 2011, 122 (06) :691-702

[4] Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients [J].

Alavi, Afagh ;

Nafissi, Shahriar ;

Rohani, Mohammad ;

Zamani, Babak ;

Sedighi, Behnaz ;

Shamshiri, Hosein ;

Fan, Jian-Bing ;

Ronaghi, Mostafa ;

Elahi, Elahe .

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 [J].

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 .

BRAIN, 2008, 131 :706-720

[6] TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration [J].

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 .

ANNALS OF NEUROLOGY, 2009, 65 (04) :470-474

[7] Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide [J].

Benussi, Luisa ;

Ghidoni, Roberta ;

Pegoiani, Eleonora ;

Moretti, Davide V. ;

Zanetti, Orazio ;

Binetti, Giuliano .

NEUROBIOLOGY OF DISEASE, 2009, 33 (03) :379-385

[8] Amyotrophic Lateral Sclerosis, 2016: existing therapies and the ongoing search for neuroprotection [J].

Blasco, H. ;

Patin, F. ;

Andres, C. R. ;

Corcia, P. ;

Gordon, P. H. .

EXPERT OPINION ON PHARMACOTHERAPY, 2016, 17 (12) :1669-1682

[9] Cognitive and behavioral features of c9FTD/ALS [J].

Boeve, Bradley F. ;

Graff-Radford, Neill R. .

ALZHEIMERS RESEARCH & THERAPY, 2012, 4 (04)

[10] Mutation within TARDBP Leads to Frontotemporal Dementia without Motor Neuron Disease [J].

Borroni, B. ;

Bonvicini, C. ;

Alberici, A. ;

Buratti, E. ;

Agosti, C. ;

Archetti, S. ;

Papetti, A. ;

Stuani, C. ;

Di Luca, M. ;

Gennarelli, M. ;

Padovani, A. .

HUMAN MUTATION, 2009, 30 (11) :E974-E983

← 1 2 3 4 5 6 7 8 9 10 →