{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:59:52Z","timestamp":1790985592755,"version":"4.1.0"},"reference-count":75,"publisher":"Informa UK Limited","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders"],"published-print":{"date-parts":[[2003,12]]},"DOI":"10.1080\/14660820310011287","type":"journal-article","created":{"date-parts":[[2003,11,11]],"date-time":"2003-11-11T17:54:48Z","timestamp":1068573288000},"page":"225-231","source":"Crossref","is-referenced-by-count":29,"title":["The genetics of motor neuron diseases"],"prefix":"10.1080","volume":"4","author":[{"given":"Denise A","family":"Figlewicz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard W","family":"Orrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"301","published-online":{"date-parts":[[2009,7,10]]},"reference":[{"key":"CIT0001","first-page":"359","volume":"30","author":"Hudson AJ","year":"1993","journal-title":"Clinicopathological features of primary lateral sclerosis are different from amyo- trophic lateral sclerosis. Brain Res Bull"},{"key":"CIT0002","first-page":"495","volume":"115","author":"Pringle CE","year":"1992","journal-title":"Munoz DG et al. Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria. Brain"},{"key":"CIT0003","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320450118","volume":"45","author":"Bailey-Wilson JE","year":"1993","journal-title":"Am J Med Genet"},{"key":"CIT0005","first-page":"90","volume":"124","author":"Figlewicz DA","year":"1994","journal-title":"Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21. J Neurolo Sci"},{"key":"CIT0006","first-page":"59","volume":"362","author":"Rosen DR","year":"1993","journal-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyo- trophic lateral sclerosis. Nature"},{"key":"CIT0007","first-page":"746","volume":"48","author":"Orrell RW","year":"1997","journal-title":"Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for Cu\/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology"},{"key":"CIT0008","first-page":"210","volume":"41","author":"Cudkowicz ME","year":"1997","journal-title":"Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol"},{"key":"CIT0009","first-page":"1153","volume":"119","author":"Andersen PM","year":"1996","journal-title":"Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homo- zygosity for Asp90Ala Cu\/Zn-superoxide dismutase mutation. Brain"},{"key":"CIT0010","first-page":"810","volume":"39","author":"Orrell RW","year":"1996","journal-title":"Difficulties in distinguish- ing sporadic from familial amyotrophic lateral sclerosis. Ann Neurol"},{"key":"CIT0011","first-page":"557","volume":"5","author":"Figlewicz DA","year":"1994","journal-title":"The Cu\/Zn superoxide dismutase gene in ALS and Parkinsonism-dementia of Guam. NeuroReport"},{"key":"CIT0012","first-page":"56","volume":"169","author":"Orrell RW","year":"1999","journal-title":"Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci"},{"key":"CIT0013","first-page":"1723","volume":"120","author":"Andersen PM","year":"1997","journal-title":"Phenotypic heterogeneity in motor neuron disease patients with Cu\/Zn superoxide dismutase mutations in Scandinavia. Brain"},{"key":"CIT0014","first-page":"895","volume":"57","author":"Ince PG","journal-title":"Slade JY et al. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu\/Zn superoxide dismutase: molecular pathology of five new cases"},{"key":"CIT0015","first-page":"1772","volume":"264","author":"Gurney ME","year":"1994","journal-title":"Motor neuron degeneration in mice that express a human Cu\/Zn superoxide dismutase mutation. Science"},{"key":"CIT0016","first-page":"327","volume":"18","author":"Bruijn LI","year":"1997","journal-title":"ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron"},{"key":"CIT0017","first-page":"484","volume":"153","author":"Price DL","year":"1997","journal-title":"Amyotrophic lateral sclerosis and Alzheimer\u2019s disease. Lessons from model systems. Rev Neurol"},{"key":"CIT0018","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/(SICI)1097-010X(199809\/10)282:1\/2<32::AID-JEZ7>3.0.CO;2-O","volume":"282","author":"Morrison BM","year":"1998","journal-title":"J Exp Zool"},{"key":"CIT0019","first-page":"147","volume":"39","author":"Gurney M","year":"1996","journal-title":"Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol"},{"key":"CIT0020","first-page":"347","volume":"5","author":"Klivenyi P","year":"1999","journal-title":"Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nature Med"},{"key":"CIT0021","doi-asserted-by":"publisher","DOI":"10.1006\/exnr.1999.7142"},{"key":"CIT0022","first-page":"1548","volume":"9","author":"Hottinger AF","year":"1997","journal-title":"The copper chelator d-penicillamine delays onset of disease and extends survival in a transgenic mouse model of familial amotrophic lateral sclerosis. European Journal of Neuroscience"},{"key":"CIT0023","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00227-X"},{"key":"CIT0024","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1006\/exnr.1998.6984","volume":"155","author":"Barneoud P","year":"1999","journal-title":"Exp Neurol"},{"key":"CIT0025","first-page":"335","volume":"288","author":"Li M","year":"2000","journal-title":"Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model. Science"},{"key":"CIT0027","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1089\/10430349950017536","volume":"10","author":"Mohajeri MH","year":"1999","journal-title":"Hum Gene Ther"},{"key":"CIT0028","first-page":"803","volume":"9","author":"Azzouz M","year":"2000","journal-title":"Increased motor neuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of adeno-associated virus encoding Bcl-2. Hum Mol Genet"},{"key":"CIT0029","first-page":"1425","volume":"347","author":"Lacomblez L","year":"1996","journal-title":"Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Lancet"},{"issue":"2","key":"CIT0030","volume-title":"Moore DH. Riluzole for amyotrophic lateral sclerosis ALS\/motor neuron disease (MND) (Cochrane Review)","author":"Miller RG","year":"2000"},{"key":"CIT0031","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/S0896-6273(00)81108-3","volume":"24","author":"Cleveland DW.","year":"1999","journal-title":"Neuron"},{"key":"CIT0032","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM200105313442207","volume":"344","author":"Rowland LP","year":"2001","journal-title":"N Engl J Med"},{"key":"CIT0033","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1055\/s-2001-15260","volume":"21","author":"Jr Brown RH","year":"2001","journal-title":"Pathogenesis. Seminars Neurol"},{"key":"CIT0034","first-page":"267","volume":"7","author":"Shaw PJ.","year":"2001","journal-title":"Hong Kong Med J"},{"key":"CIT0035","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1038\/35097565","volume":"2","author":"Cleveland DW","year":"2001","journal-title":"Nature Neurosci Rev"},{"key":"CIT0036","first-page":"73","volume":"38","author":"Rothstein JD","year":"1995","journal-title":"Selective loss of glial glutamate transporter Glt-1 in amyotrophic lateral sclerosis. Ann Neurol"},{"key":"CIT0037","doi-asserted-by":"crossref","first-page":"4069","DOI":"10.1523\/JNEUROSCI.16-13-04069.1996","volume":"16","author":"Carriedo SG","year":"1996","journal-title":"J Neurosci"},{"key":"CIT0038","first-page":"200","volume":"42","author":"Williams TL","year":"1997","journal-title":"Ince PG et al. Calcium-permeable AMPA receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis. Ann Neurol"},{"key":"CIT0039","doi-asserted-by":"crossref","first-page":"7727","DOI":"10.1523\/JNEUROSCI.18-19-07727.1998","volume":"18","author":"Carriedo SG","year":"1998","journal-title":"J Neurosci"},{"key":"CIT0040","first-page":"571","volume":"57","author":"Siklos L","year":"1998","journal-title":"Intracellular calcium parallels motor neuron degeneration in SOD1 mutant mice. J Neuropathol Exp Neurol"},{"key":"CIT0041","first-page":"9673","volume":"18","author":"Roy J","year":"1998","journal-title":"Glutamate potentiates the toxicity of mutant Cu\/Zn \u2013superoxide dismutase in motor neurons by postsynaptic calcium-dependent mechanisms. J Neurosci"},{"key":"CIT0042","doi-asserted-by":"crossref","unstructured":"Kruman II, Pedersen WA, Springer JE, Mattson MP. ALS-linked Cu\/Zn-SOD mutation increases vulnerability of motor neurons to excitotoxicity by a mechanism involving increased oxidative stress and perturbed calcium homeostasis. Exp Neurol 1999; l60: 28\u201339.","DOI":"10.1006\/exnr.1999.7190"},{"key":"CIT0043","first-page":"34","volume":"2","author":"Hosler BA","year":"1998","journal-title":"Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus on chromosome 2q33. Neurogenetics"},{"key":"CIT0044","first-page":"166","volume":"29","author":"Hadano S","year":"2001","journal-title":"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet"},{"key":"CIT0045","first-page":"160","volume":"29","author":"Yang Y","year":"2001","journal-title":"Deng H-X et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genet"},{"key":"CIT0046","first-page":"251","volume":"70","author":"Hand CK","year":"2002","journal-title":"Salachas F et al. A novel locus for familial amyotrophic lateral sclerosis"},{"key":"CIT0047","first-page":"383","volume":"73","author":"Abalkhail A","year":"2003","journal-title":"A new familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12.1\u2013 16q12.2. Am J Hum Genet"},{"key":"CIT0048","doi-asserted-by":"crossref","unstructured":"Ruddy DM, Parton MJ, Al-Chalabi A et al. Two families with familial Amyotrophic Lateral Sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet 2003; 73: 390\u2013396.","DOI":"10.1086\/377157"},{"key":"CIT0049","first-page":"397","volume":"73","author":"Sapp PC","year":"2003","journal-title":"Identification of two novel loci for dominantly inherited familial Amyotrophic Lateral Sclerosis. Am J Hum Genet"},{"key":"CIT0050","first-page":"633","volume":"62","author":"Chance PF","year":"1998","journal-title":"Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclero- sis to chromosome 9q34. Am J Hum Genet"},{"key":"CIT0052","first-page":"1664","volume":"284","author":"Hosler BA","year":"2000","journal-title":"Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21\u2013q22. JAMA"},{"key":"CIT0053","first-page":"702","volume":"393","author":"Hutton M","year":"1998","journal-title":"Association of missense and 5-prime splice site mutations in tau with the inherited dementia FTDP-17. Nature"},{"key":"CIT0054","first-page":"7","volume":"5","author":"Parboosingh JS","year":"1995","journal-title":"Absence of mutations in the Mn superoxide dimutase or catalase genes in familial amyotrophic lateral sclerosis. Neuromusc Disord"},{"key":"CIT0055","first-page":"1757","volume":"3","author":"Figlewicz DA","year":"1994","journal-title":"Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet"},{"key":"CIT0056","first-page":"157","volume":"8","author":"Al-Chalabi A","year":"1999","journal-title":"Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Molec Genet"},{"key":"CIT0057","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1083\/jcb.147.3.531","volume":"147","author":"Beaulieu J-M","year":"1999","journal-title":"J Cell Biol"},{"key":"CIT0059","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(98)00158-X"},{"key":"CIT0060","first-page":"45","volume":"170","author":"Meyer T","year":"1999","journal-title":"The RNA of the gluta- mate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals. J Neurol Sci"},{"key":"CIT0061","first-page":"159","volume":"347","author":"Al-Chalabi A","year":"1996","journal-title":"Association of apolipoprotein E epsilon 4 allele with bulbar onset motor neuron disease. Lancet"},{"key":"CIT0062","first-page":"110","volume":"43","author":"Comi GP","year":"1998","journal-title":"Cytochrome c oxidase subunit 1 microdeletion in a patient with motor neuron disease. Ann Neurol"},{"key":"CIT0064","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199801260-00012"},{"key":"CIT0065","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1212\/WNL.52.9.1899","volume":"52","author":"Hayward C","year":"1999","journal-title":"Neurology"},{"key":"CIT0066","first-page":"378","volume":"17","author":"Mitsumoto H","year":"1995","journal-title":"Schafer IA et al. Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. Ann Neurol"},{"key":"CIT0067","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7","volume":"9","author":"Myerowitz R.","year":"1997","journal-title":"Hum Mutat"},{"key":"CIT0068","first-page":"693","volume":"7","author":"Merry DE","year":"1998","journal-title":"Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum Mol Genet"},{"key":"CIT0069","first-page":"707","volume":"32","author":"Doyu M","year":"1992","journal-title":"Severity of X-linked recessive bulbospinal neuronopathy correlates with the size of the tandem CAG repeat in androgen receptor gene. Ann Neurol"},{"key":"CIT0070","first-page":"195","volume":"3","author":"Garofalo O","year":"1993","journal-title":"Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuro- musc Disord"},{"key":"CIT0071","first-page":"568","volume":"49","author":"Parboosingh JS","year":"1997","journal-title":"Krizus A et al. Spinobulbar mus- cular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology"},{"key":"CIT0072","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1212\/WNL.53.1.5","volume":"53","author":"Figlewicz DA","year":"1999","journal-title":"Neurology"},{"key":"CIT0074","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1086\/302555","volume":"65","author":"Reid E","year":"1999","journal-title":"Am J Hum Genet"},{"key":"CIT0075","first-page":"728","volume":"66","author":"Reid E","year":"2000","journal-title":"A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromo- some 19q13. Am J Hum Genet"},{"key":"CIT0076","first-page":"702","volume":"66","author":"Fontaine B","year":"2000","journal-title":"A new locus for autosomal dominant pure spastic paraplegia on chromosome 2q24\u2013q34. Am J Hum Genet"},{"key":"CIT0079","first-page":"5","volume":"94","author":"Tamagaki A","year":"2000","journal-title":"Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet"},{"key":"CIT0081","first-page":"326","volume":"29","author":"Zhao X","year":"2001","journal-title":"Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nature Genet"},{"key":"CIT0082","first-page":"296","volume":"23","author":"Hazan J","year":"1999","journal-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genetics"},{"key":"CIT0083","first-page":"973","volume":"93","author":"Casari G","year":"1998","journal-title":"A spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell"},{"key":"CIT0084","first-page":"1612","volume":"123","author":"Auer-Grumbach M","year":"2000","journal-title":"Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V. Brain"}],"container-title":["Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.tandfonline.com\/doi\/pdf\/10.1080\/14660820310011287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T21:12:37Z","timestamp":1585257157000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.tandfonline.com\/doi\/full\/10.1080\/14660820310011287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12]]},"references-count":75,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2009,7,10]]},"published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1080\/14660820310011287"],"URL":"https:\/\/doi.org\/10.1080\/14660820310011287","relation":{},"ISSN":["1466-0822"],"issn-type":[{"value":"1466-0822","type":"print"}],"subject":[],"published":{"date-parts":[[2003,12]]}}}