Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

Annals of Neurology

Volumn 74, Issue 5, 2013, Pages 699-708

  Byrne, Susan ^a,b   Heverin, Mark ^b   Elamin, Marwa ^b   Bede, Peter ^a,b   Lynch, Catherine ^a   Kenna, Kevin ^b   Maclaughlin, Russell ^a   Walsh, Cathal ^b   Al Chalabi, Ammar ^c   Hardiman, Orla ^a,b  

^a BEAUMONT HOSPITAL   (Ireland)

^b TRINITY COLLEGE DUBLIN   (Ireland)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CAUSE OF DEATH; CONTROLLED STUDY; DEATH CERTIFICATE; DEGENERATIVE DISEASE; DEMENTIA; DEPRESSION; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FIRST DEGREE RELATIVE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; ONSET AGE; PARKINSON DISEASE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; PSYCHOSIS; QUESTIONNAIRE; RECURRENCE RISK; RECURRENT DISEASE; RISK FACTOR; SCHIZOPHRENIA; SECOND DEGREE RELATIVE; SEMI STRUCTURED INTERVIEW; SUICIDE; THIRD DEGREE RELATIVE;

EID: 84890798242     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23969     Document Type: Article

References (30)

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: 623-627.
2. Al-Chalabi A, Fang F, Hanby MF, et al. An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 2010; 81: 1324-1326.
3. Hanby MF, Scott KM, Scotton W, et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain 2011; 134 (pt 12): 3454-3457.
4. Boxer AL, Mackenzie IR, Boeve BF, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011; 82: 196-203.
5. Elamin M, Phukan J, Bede P, et al. Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia. Neurology 2011; 76: 1263-1269.
6. Phukan J, Elamin M, Bede P, et al. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 2012; 83: 102-108.
7. Fallis BA, Hardiman O,. Aggregation of neurodegenerative disease in ALS kindreds. Amyotroph Lateral Scler 2009; 10: 95-98.
8. Majoor-Krakauer D, Ottman R, Johnson WG, Rowland LP,. Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility. Neurology 1994; 44: 1872-1877.
9. Smith BN, Newhouse S, Shatunov A, et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2013; 21: 102-108.
10. Byrne S, Elamin M, Bede P, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 2012; 11: 232-240.
11. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256.
12. Floris G, Borghero G, Cannas A, et al. Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J Neurol 2012; 259: 1749-1751.
13. Lindquist S, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013; 83: 279-283.
14. Synofzik M, Biskup S, Leyhe T, et al. Suicide attempt as the presenting symptom of c9orf72 dementia. Am J Psychiatry 2012; 169: 1211-1213.
15. Mosca L, Lunetta C, Tarlarini C, et al. Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject. Neurobiol Aging 2012; 33: 1846.e1-1846.e4.
16. van Es MA, Diekstra FP, Veldink JH, et al. A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology 2009; 72: 287-288.
17. Koppers M, van Blitterswijk MM, Vlam L, et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012; 33: 837.e7-837.e13.
18. Chio A, Calvo A, Mazzini L, et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 2012; 79: 1983-1989.
19. Huisman MH, de Jong SW, Verwijs MC, et al. Family history of neurodegenerative and vascular diseases in ALS: a population-based study. Neurology 2011; 77: 1363-1369.
20. Lillo P, Garcin B, Hornberger M, et al. Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol 2010; 67: 826-830.
21. Howland RH,. Schizophrenia and amyotrophic lateral sclerosis. Compr Psychiatry 1990; 31: 327-336.
22. Goode DJ, Meltzer HY, Crayton JW, Mazura TA,. Physiologic abnormalities of the neuromuscular system in schizophrenia. Schizophr Bull 1977; 3: 121-138.
23. O'Toole O, Traynor BJ, Brennan P, et al. Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008; 79: 30-32.
24. 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.
25. Byrne S, Bede P, Elamin M, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011; 12: 157-159.
26. Risch N,. Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 1990; 46: 229-241.
27. Johnston CA, Stanton BR, Turner MR, et al. Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol 2006; 253: 1642-1643.
28. Vivekananda U, Manjalay ZR, Ganesalingam J, et al. Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability. J Neurol Neurosurg Psychiatry 2011; 82: 635-637.
29. Lee JK, Mathews K, Schlaggar B, et al. Measures of growth in children at risk for Huntington disease. Neurology 2012; 79: 668-674.
30. Schoder D, Hannequin D, Martinaud O, et al. Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia. Br J Psychiatry 2010; 197: 28-35.