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

[81] The anatomy of cognitive impairment in amyotrophic lateral sclerosis: More than frontal lobe dysfunction [J].

Tsermentseli, Stella ;

Leigh, P. Nigel ;

Goldstein, Laura H. .

CORTEX, 2012, 48 (02) :166-182

[82] Genetic screening in sporadic ALS and FTD [J].

Turner, Martin R. ;

Al-Chalabi, Ammar ;

Chio, Adriano ;

Hardiman, Orla ;

Kiernan, Matthew C. ;

Rohrer, Jonathan D. ;

Rowe, James ;

Seeley, William ;

Talbot, Kevin .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2017, 88 (12) :1042-1044

[83] Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population [J].

Umoh, Mfon E. ;

Fournier, Christina ;

Li, Yingjie ;

Polak, Meraida ;

Shaw, Latoya ;

Landers, John E. ;

Hu, William ;

Gearing, Marla ;

Glass, Jonathan D. .

NEUROLOGY, 2016, 87 (10) :1024-1030

[84] Genetic testing in ALS A survey of current practices [J].

Vajda, Alice ;

McLaughlin, Russell L. ;

Heverin, Mark ;

Thorpe, Owen ;

Abrahams, Sharon ;

Al-Chalabi, Ammar ;

Hardiman, Orla .

NEUROLOGY, 2017, 88 (10) :991-999

[85] A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats [J].

van der Zee, Julie ;

Gijselinck, Ilse ;

Dillen, Lubina ;

Van Langenhove, Tim ;

Theuns, Jessie ;

Engelborghs, Sebastiaan ;

Philtjens, Stephanie ;

Vandenbulcke, Mathieu ;

Sleegers, Kristel ;

Sieben, Anne ;

Baumer, Veerle ;

Maes, Githa ;

Corsmit, Ellen ;

Borroni, Barbara ;

Padovani, Alessandro ;

Archetti, Silvana ;

Perneczky, Robert ;

Diehl-Schmid, Janine ;

de Mendonca, Alexandre ;

Miltenberger-Miltenyi, Gabriel ;

Pereira, Sonia ;

Pimentel, Jose ;

Nacmias, Benedetta ;

Bagnoli, Silvia ;

Sorbi, Sandro ;

Graff, Caroline ;

Chiang, Huei-Hsin ;

Westerlund, Marie ;

Sanchez-Valle, Raquel ;

Llado, Albert ;

Gelpi, Ellen ;

Santana, Isabel ;

Almeida, Maria Rosario ;

Santiago, Beatriz ;

Frisoni, Giovanni ;

Zanetti, Orazio ;

Bonvicini, Cristian ;

Synofzik, Matthis ;

Maetzler, Walter ;

vom Hagen, Jennifer Mueller ;

Schoels, Ludger ;

Heneka, Michael T. ;

Jessen, Frank ;

Matej, Radoslav ;

Parobkova, Eva ;

Kovacs, Gabor G. ;

Stroebel, Thomas ;

Sarafov, Stayko ;

Tournev, Ivailo ;

Jordanova, Albena .

HUMAN MUTATION, 2013, 34 (02) :363-373

[86]

van Swieten JC, 1999, ANN NEUROL, V46, P617, DOI 10.1002/1531-8249(199910)46:4<617::AID-ANA10>3.0.CO

[87]

2-I

[88] C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies [J].

Vatsavayai, Sarat C. ;

Nana, Alissa L. ;

Yokoyama, Jennifer S. ;

Seeley, William W. .

ACTA NEUROPATHOLOGICA, 2019, 137 (01) :1-26

[89] Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing [J].

Wagner, Karin N. ;

Nagaraja, Haikady N. ;

Allain, Dawn C. ;

Quick, Adam ;

Kolb, Stephen J. ;

Roggenbuck, Jennifer .

MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (02) :224-229

[90] Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing [J].

Wagner, Karin N. ;

Nagaraja, Haikady ;

Allain, Dawn C. ;

Quick, Adam ;

Kolb, Stephen ;

Roggenbuck, Jennifer .

JOURNAL OF GENETIC COUNSELING, 2017, 26 (03) :604-611

← 1 2 3 4 5 6 7 8 9 10 →