Amyotrophic lateral sclerosis from bench to bedside

被引：27

作者：

Lomen-Hoerth, Catherine ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Neurol, ALS Ctr, San Francisco, CA 94117 USA

来源：

SEMINARS IN NEUROLOGY | 2008年 / 28卷 / 02期

关键词：

ALS; etiology; treatment; diagnosis; genetics;

D O I：

10.1055/s-2008-1062265

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Amyotrophic lateral sclerosis (ALS) is a progressive disease for which there are currently no significant treatments to alter the fatal outcome. The cause of the disease is still elusive, except in familial cases where significant advances have been made in identifying new genetic causes. ALS is a relatively rare disease affecting similar to 1 in 100,000 people equally across geographic and ethnic distributions. It is a difficult disease to diagnose, and there are many mimics of ALS. Overlap with dementia may provide new clues to the etiology and treatment. There have been many advances in symptomatic treatments and improvements in the quality of life for ALS patients due to technological advancements.

引用

页码：205 / 211

页数：7

共 28 条

[1] ALS:: A disease of motor neurons and their nonneuronal neighbors [J].

Boillee, Sverine ;

Vande Velde, Christine ;

Cleveland, Don W. .

NEURON, 2006, 52 (01) :39-59

[2] El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis [J].

Brooks, BR ;

Miller, RG ;

Swash, M ;

Munsat, TL .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2000, 1 (05) :293-299

[3] Unraveling the mechanisms involved in motor neuron degeneration in ALS [J].

Bruijn, LI ;

Miller, TM ;

Cleveland, DW .

ANNUAL REVIEW OF NEUROSCIENCE, 2004, 27 :723-749

[4] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) [J].

Chen, YZ ;

Bennett, CL ;

Huynh, HM ;

Blair, IP ;

Puls, I ;

Irobi, J ;

Dierick, I ;

Abel, A ;

Kennerson, ML ;

Rabin, BA ;

Nicholson, GA ;

Auer-Grumbach, M ;

Wagner, K ;

De Jonghe, P ;

Griffin, JW ;

Fischbeck, KH ;

Timmerman, V ;

Cornblath, DR ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1128-1135

[5] A survey of clinicians' practice in the symptomatic treatment of ALS [J].

Forshew, DA ;

Bromberg, MB .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2003, 4 (04) :258-263

[6] ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis [J].

Greenway, MJ ;

Andersen, PM ;

Russ, C ;

Ennis, S ;

Cashman, S ;

Donaghy, C ;

Patterson, V ;

Swingler, R ;

Kieran, D ;

Prehn, J ;

Morrison, KE ;

Green, A ;

Acharya, KR ;

Brown, RH ;

Hardiman, O .

NATURE GENETICS, 2006, 38 (04) :411-413

[7] A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 [J].

Hadano, S ;

Hand, CK ;

Osuga, H ;

Yanagisawa, Y ;

Otomo, A ;

Devon, RS ;

Miyamoto, N ;

Showguchi-Miyata, J ;

Okada, Y ;

Singaraja, R ;

Figlewicz, DA ;

Kwiatkowski, T ;

Hosler, BA ;

Sagie, T ;

Skaug, J ;

Nasir, J ;

Brown, RH ;

Scherer, SW ;

Rouleau, GA ;

Hayden, MR ;

Ikeda, JE .

NATURE GENETICS, 2001, 29 (02) :166-173

[8] A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q [J].

Hand, CK ;

Khoris, J ;

Salachas, F ;

Gros-Louis, F ;

Lopes, AAS ;

Mayeux-Portas, V ;

Brown, RH ;

Meininger, V ;

Camu, W ;

Rouleau, GA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :251-256

[9] Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers [J].

Hentati, A ;

Ouahchi, K ;

Pericak-Vance, MA ;

Nijhawan, D ;

Ahmad, A ;

Yang, Y ;

Rimmler, J ;

Hung, WY ;

Schlotter, B ;

Ahmed, A ;

Ben Hamida, M ;

Hentati, F ;

Siddique, T .

NEUROGENETICS, 1998, 2 (01) :55-60

[10] Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 [J].

Hosler, BA ;

Siddique, T ;

Sapp, PC ;

Sailor, W ;

Huang, MC ;

Hossain, A ;

Daube, JR ;

Nance, M ;

Fan, CH ;

Kaplan, J ;

Hung, WY ;

McKenna-Yasek, D ;

Haines, JL ;

Pericak-Vance, MA ;

Horvitz, HR ;

Brown, RH .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2000, 284 (13) :1664-1669

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