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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2

Dürr, A. ; Davoine, C.-S ; Paternotte, C. ; von Fellenberg, J. ; Cogilnicean, S. ; Coutinho, P. ; Lamy, C. ; Bourgeois, S. ; Prud'homme, J.-F ; Penet, C. ; Mas, J.-L ; Burgunder, J.-M ; Hazan, J. ; Weissenbach, J. ; Brice, A. ; Fontaine, B.

In: Brain, 1996, vol. 119, no. 5, p. 1487-1496

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    Titel
    • Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
    Autor
    • Dürr, A.. INSERM U289 Hôpital Sainte Anne, Paris
    • Davoine, C.-S. INSERM U134, Hôpital de la Salpêtrière Hôpital Sainte Anne, Paris
    • Paternotte, C.. Généthon and CNRS URA 1922 Evry, France
    • von Fellenberg, J.. Neurologische Klinik, Inselspital Bern, Switzerland
    • Cogilnicean, S.. INSERM U289 Hôpital Sainte Anne, Paris
    • Coutinho, P.. Serviço de Neurologia Hospital Geral de Santo António, Porto, Portugal
    • Lamy, C.. Service de Neurologie Hôpital Sainte Anne, Paris
    • Bourgeois, S.. INSERM U134, Hôpital de la Salpêtrière Hôpital Sainte Anne, Paris
    • Prud'homme, J.-F. Généthon and CNRS URA 1922 Evry, France
    • Penet, C.. INSERM U289 Hôpital Sainte Anne, Paris
    • Mas, J.-L. Service de Neurologie Hôpital Sainte Anne, Paris
    • Burgunder, J.-M. Neurologische Klinik, Inselspital Bern, Switzerland
    • Hazan, J.. Généthon and CNRS URA 1922 Evry, France
    • Weissenbach, J.. Généthon and CNRS URA 1922 Evry, France
    • Brice, A.. INSERM U289 Hôpital Sainte Anne, Paris
    • Fontaine, B.. Fédération de Neurologie Hôpital Sainte Anne, Paris
    Dokumententyp
    • Postprint
    Sprache
    • Englisch
    Veröffentlicht in
    • Brain, 1996, vol. 119, no. 5, p. 1487-1496. Oxford University Press
    Andere elektronische Ausgabe
    OAI-PMH-ID
    • oai:doc.rero.ch:291765
    Summary
    Summary We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for ∼40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers presented increased reflexes and/or extensor plantar responses independent of age at examination. The mean age at onset was 29 years, ranging from 1 to 63 years. Intra- as well as inter-familial variability of age at onset was important, but did not result from anticipation. Phenotype—genotype correlations and comparison with SPG3 and SPG5 families indicated that despite the variability of age at onset, SPG4 is a single genetic entity but no clinical features distinguish individual SPG4 patients from those with SPG3 or SPG5 mutations