Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. Issue 4 (10th November 2006)

• Record Type: Journal Article
• Authors: Depienne, Christel; Fedirko, Estelle; Forlani, Sylvie; Cazeneuve, Cécile; Ribaï, Pascale; Feki, Imed; Tallaksen, Chantal; Nguyen, Karine; Stankoff, Bruno; Ruberg, Merle; Stevanin, Giovanni; Durr, Alexandra; Brice, Alexis
• Is Part Of: Journal of medical genetics. Volume 44:Issue 4(2007)
• Page Start: 281
• Page End: 284
• Publication Date: 2006-11-10
• Subjects: AD-HSP, autosomal dominant hereditary spastic paraplegia -- HSP, hereditary spastic paraplegia -- MLPA, multiplex ligation-dependent probe amplification; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2006.046425
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Background: Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions. Methods: 121 mutation-negative probands were screened for rearrangements in SPG4 by multiplex ligation-dependent probe amplification. Results: 24 patients with 16 different heterozygotic exon deletions in SPG4 (20%) were identified, ranging from one exon to the whole coding sequence. Comparison with 78 patients with point mutations showed a similar clinical picture but an earlier age at onset. Conclusions: Exon deletions in SPG4 are as frequent as point mutations, and SPG4 is responsible for 40% of AD-HSP.