{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:04:15Z","timestamp":1774526655797,"version":"3.50.1"},"reference-count":62,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2013,3,24]],"date-time":"2013-03-24T00:00:00Z","timestamp":1364083200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurodegenerative Diseases"],"published-print":{"date-parts":[[2013,3,24]]},"abstract":"<jats:p>Spinal muscular atrophy (<jats:italic>SMA<\/jats:italic>) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved in all four forms of<jats:italic>SMA<\/jats:italic>, the so-called survival motor neuron (<jats:italic>SMN<\/jats:italic>) gene, is duplicated, with a telomeric (tel<jats:italic>SMN<\/jats:italic>or<jats:italic>SMN<\/jats:italic>1) and a centromeric copy (cent<jats:italic>SMN<\/jats:italic>or<jats:italic>SMN<\/jats:italic>2).<jats:italic>SMN<\/jats:italic>1 is homozygously deleted in over 95% of<jats:italic>SMA<\/jats:italic>patients. Another candidate gene in<jats:italic>SMA<\/jats:italic>is the neuronal apoptosis inhibitory protein (<jats:italic>NAIP<\/jats:italic>) gene; it shows homozygous deletions in 45\u201367% of type I and 20\u201342% of type II\/type III patients. Here we studied the<jats:italic>SMN<\/jats:italic>and<jats:italic>NAIP<\/jats:italic>genes in 92 Algerian<jats:italic>SMA<\/jats:italic>patients (20 type I, 16 type II, 53 type III, and 3 type IV) from 57 unrelated families, using a semiquantitative PCR approach. Homozygous deletions of<jats:italic>SMN<\/jats:italic>1 exons 7 and\/or 8 were found in 75% of the families. Deletions of exon 4 and\/or 5 of the<jats:italic>NAIP<\/jats:italic>gene were found in around 25%. Conversely, the quantitative analysis of<jats:italic>SMN<\/jats:italic>2 copies showed a significant correlation between<jats:italic>SMN<\/jats:italic>2 copy number and the type of<jats:italic>SMA<\/jats:italic>.<\/jats:p>","DOI":"10.1155\/2013\/903875","type":"journal-article","created":{"date-parts":[[2013,3,24]],"date-time":"2013-03-24T21:01:04Z","timestamp":1364158864000},"page":"1-7","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy"],"prefix":"10.1155","volume":"2013","author":[{"given":"Y.","family":"Sifi","sequence":"first","affiliation":[{"name":"Service of Neurology CHU of Constantine, Algeria"},{"name":"Laboratory of Biology and Molecular Genetics CHU and University of Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Sifi","sequence":"additional","affiliation":[{"name":"Laboratory of Biology and Molecular Genetics CHU and University of Constantine, Algeria"},{"name":"Laboratory of Biochemistry CHU of Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Boulefkhad","sequence":"additional","affiliation":[{"name":"Service of Neurology CHU of Constantine, Algeria"},{"name":"Laboratory of Biology and Molecular Genetics CHU and University of Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Abadi","sequence":"additional","affiliation":[{"name":"Laboratory of Biology and Molecular Genetics CHU and University of Constantine, Algeria"},{"name":"Laboratory of Biochemistry CHU of Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Bouderda","sequence":"additional","affiliation":[{"name":"Service of Pediatrics CHU de Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Cheriet","sequence":"additional","affiliation":[{"name":"Service of Pediatrics CHU de Constantine, Algeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Magen","sequence":"additional","affiliation":[{"name":"Genetic Department of the Necker Hospital and Paris Descartes University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. 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