Classification of familial amyotrophic lateral sclerosis by family history: Effects on frequency of genes mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 12, 2012, Pages 1201-1203

  Conte, Amelia ^a   Lattante, Serena ^a   Luigetti, Marco ^a   Del Grande, Alessandra ^a   Romano, Angela ^a   Marcaccio, Alessandro ^a   Marangi, Giuseppe ^a   Rossini, Paolo Maria ^a,b   Neri, Giovanni ^a   Zollino, Marcella ^a   Sabatelli, Mario ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS SAN RAFFAELE PISANA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; FUSED IN SARCOMA PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ANG GENE; ARTICLE; ATXN2 GENE; C9ORF72 GENE; DISEASE CLASSIFICATION; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FUS GENE; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; OPTN GENE; PRIORITY JOURNAL; SOD1 GENE; TARDBP GENE; VERTICAL TRANSMISSION;

EID: 84869239772     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-302897     Document Type: Article

References (13)

1. Byrne S, Walsh C, Lynch C, et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2011;82:623-7.
2. Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 2011;7:603-15.
3. Chiò A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012;135:784-93.
4. Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered 2011;71:281-8.
5. Hanby MF, Scott KM, Scotton W, et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain 2011;134:3454-7.
6. Talbot K. Familial versus sporadic amyotrophic lateral sclerosis-a false dichotomy? Brain 2011;134:3429-31.
7. Byrne S, Bede P, Elamin M, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12:157-9.
8. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-9.
9. Sabatelli M, Madia F, Conte A, et al. Natural history of young-adult amyotrophic lateral sclerosis. Neurology 2008;71:876-81.
10. Lattante S, Conte A, Zollino M, et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease. Neurology 2012;79:66-72.
11. Byrne S, Elamin M, Bede P, et al. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases. J Neurol Neurosurg Psychiatry 2012;83:365-7.
12. Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008;70:144-52.
13. Fang F, Kamel F, Lichtenstein P, et al. Familial aggregation of amyotrophic lateral sclerosis. Ann Neurol 2009;66:94-9.