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Brain, Vol. 119, No. 5, 1487-1496, 1996
© 1996 Guarantors of Brain

research-article

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2

A. Dürr1,2,, C.-S. Davoine3, C. Paternotte5, J. von Fellenberg6, S. Cogilnicean1,2, P. Coutinho7, C. Lamy4, S. Bourgeois3, J.-F. Prud'homme5, C. Penet1, J.-L. Mas4, J.-M. Burgunder6, J. Hazan5, J. Weissenbach5, A. Brice1,2 and B. Fontaine2,3

1INSERM U289 Hôpital Sainte Anne, Paris 2Fédération de Neurologie Hôpital Sainte Anne, Paris 3INSERM U134, Hôpital de la Salpêtrière Hôpital Sainte Anne, Paris 4Service de Neurologie Hôpital Sainte Anne, Paris 5Généthon and CNRS URA 1922 Evry, France 6Neurologische Klinik, Inselspital Bern, Switzerland 7Serviço de Neurologia Hospital Geral de Santo António, Porto, Portugal

Correspondence to: Dr Alexandra Dürr, INSERM U289, Hôpital de la Salpêtrière, 47, Boulevard de I'Hôpital, 75651 Paris Cedex 13, France

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.

spastic paraplegia; SPG4; linkage analysis; anticipation; genetic heterogeneity

Received March 5, 1996. Accepted April 26, 1996.


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