Proposed criteria for familial amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis

Volumn 12, Issue 3, 2011, Pages 157-159

  Byrne, Susan ^a,b   Bede, Peter ^a,b   Elamin, Marwa ^a,b   Kenna, Kevin ^a   Lynch, Catherine ^b   McLaughlin, Russell ^a   Hardiman, Orla ^a,b  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b BEAUMONT HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN; COPPER ZINC SUPEROXIDE DISMUTASE; MEMBRANE PROTEIN; OPTINEURIN; PROTEIN TARDP; RNA BINDING PROTEIN; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; DISEASE CLASSIFICATION; ETHNICITY; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; PRIORITY JOURNAL; PROGNOSIS;

AMYOTROPHIC LATERAL SCLEROSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; SUPEROXIDE DISMUTASE;

EID: 79955777846     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2010.545420     Document Type: Article

References (14)

1. Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis of the literature. J Neurol Neurosurg Psychiatry. (In press).
2. Valdmanis P, Rouleau G. Genetics of familial amyotrophic lateral sclerosis. Neurol. 2008;70:144-52.
3. Giaggheddu M, Puggioni G, Masala C, Biancu F, Pirari G, Piras MR, et al. Epidemiological study of amyotrophic lateral sclerosis in Sardinia, Italy. Acta Neurol Scand. 1983; 68: 394-404. (Pubitemid 14214460)
4. Haverkamp LJ, Appel V, Appel SH. Natural history of amyotrophic lateral sclerosis in a database population: validation of a scoring system and a model for survival prediction. Brain. 1995;118:707-19.
5. Yeo L, Lynch C, Hardiman O. Validating population based registers for ALS: how accurate is death certification? J Neurol. 2010;257:1235-9.
6. Johnston CA, Stanton BR, Turner MR, Gray R, Hay-Ming Blunt A, Butt D, et al. Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol. 2006;252:1642-3. (Pubitemid 46116727)
7. Alonso A, Logroscino G, Jick S, Hernan MA. Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population based study. Eur J Neurol. 2009;16: 745-51.
8. van Es AM, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;81:562-6.
9. Andersen PM, NilssonP, Keranen ML, Forsgren L, Hagglund J, Karlsberg M . Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn superoxidase dismutase mutations in Scandanavia. Brain. 1997;120: 1723-37. (Pubitemid 27443049)
10. Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Ludolph AC. The epidemiology of Cu/Zn SOD mutations in Germany: a study of 217 families. J Neurol. 2010; 257:1298-302.
11. Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurology. 2010;9:995-1007.
12. Vance C, Al-Chalabi A, Ruddy D, Smith B, Hu X, Sreedharan J, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21.3. Brain. 2006;129:868-76.
13. Miller RG, Munsat TL, Swash M, Brooks BR. Consensus guidelines for the design and implementation of clinical trials in ALS. World Federation of Neurology committee on Research. J Neurol Sci. 1999;169:2-12. (Pubitemid 29502500)
14. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors. J Neurol Sci. 1994;124(Suppl):96-107.