Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy
Joint Authors
Abadi, N.
Bouderda, Z.
Sifi, K.
Hamri, A.
Munnich, A.
Cheriet, R.
Benlatreche, C.
Bonnefont, J. P.
Sifi, Y.
Boulefkhad, A.
Magen, M.
Source
Journal of Neurodegenerative Diseases
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-03-24
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Spinal muscular atrophy (SMA) 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 SMA, the so-called survival motor neuron (SMN) gene, is duplicated, with a telomeric (tel SMN or SMN1) and a centromeric copy (cent SMN or SMN2).
SMN1 is homozygously deleted in over 95% of SMA patients.
Another candidate gene in SMA is the neuronal apoptosis inhibitory protein (NAIP) gene; it shows homozygous deletions in 45–67% of type I and 20–42% of type II/type III patients.
Here we studied the SMN and NAIP genes in 92 Algerian SMA 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 SMN1 exons 7 and/or 8 were found in 75% of the families.
Deletions of exon 4 and/or 5 of the NAIP gene were found in around 25%.
Conversely, the quantitative analysis of SMN2 copies showed a significant correlation between SMN2 copy number and the type of SMA.
American Psychological Association (APA)
Sifi, Y.& Sifi, K.& Boulefkhad, A.& Abadi, N.& Bouderda, Z.& Cheriet, R.…[et al.]. 2013. Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy. Journal of Neurodegenerative Diseases،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-506771
Modern Language Association (MLA)
Sifi, Y.…[et al.]. Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy. Journal of Neurodegenerative Diseases No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-506771
American Medical Association (AMA)
Sifi, Y.& Sifi, K.& Boulefkhad, A.& Abadi, N.& Bouderda, Z.& Cheriet, R.…[et al.]. Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy. Journal of Neurodegenerative Diseases. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-506771
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-506771