{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:27:41Z","timestamp":1791160061139,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2352,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The telomeric copy (t) of the survival motor neuron (<jats:italic>SMN<\/jats:italic>) gene is homozygously deleted in more than 90% of patients with infantile motor neuron disease (MND). In the general population, no homozygous SMNt deletion has been found, whereas 5% of centromeric SMN (<jats:italic>SMNc<\/jats:italic>) deletions can be observed. Although <jats:italic>SMNt<\/jats:italic> deletions appear causal for infantile and at least some adult\u2010onset spinal muscular atrophy (SMA) (type IV), the respective role of <jats:italic>SMN<\/jats:italic> deletions remains unclear in adult\u2010onset MNDs. We studied SMN gene in three different groups of patients with adult\u2010onset MNDs. In sporadic amyotrophic lateral sclerosis (ALS; n = 177) ands familial ALS (n = 66), no <jats:italic>SMNt<\/jats:italic> deletion had been found, and the frequency of <jats:italic>SMNc<\/jats:italic> deletions was not increased. Converesly, among the 14 patients with sporadic pure lower MND (LMND), we found 2 patients with homozygous <jats:italic>SMNt<\/jats:italic> deletions (14%) and 5 patients with homozygous SMNc deletions (36%). These data suggest that (1) SMNt deletions do not account for the major part, if any, of adult\u2010onset LMND cases; and (2) <jats:italic>SMNc<\/jats:italic> deletions act as a susceptibility factor for LMNDs in adults. The clinical and gentic heterogeneity of LMND cases, including SMA type IV, are yet to be unexplained. Further studies on large groups of adult\u2010onset LMND patients are warranted to refine its nosology.<\/jats:p>","DOI":"10.1002\/ana.410430513","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:15:36Z","timestamp":1104592536000},"page":"640-644","source":"Crossref","is-referenced-by-count":61,"title":["Association between centromeric deletions of the <i>SMN<\/i> gene and sporadic adult\u2010onset lower motor neuron 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