Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2 | Zendy

Alexandra Dürr | Zendy; C.-S. Davoine | Zendy; Caroline Paternotte | Zendy; J. von Fellenberg | Zendy; S. Cogilnicean | Zendy; Paula Coutinho | Zendy; Catherine Lamy | Zendy; Stéphane Bourgeois | Zendy; J Prudhomme | Zendy; Clotilde Penet | Zendy; J.L. Mas | Zendy; JeanMarc Burgunder | Zendy; Jamïlé Hazan | Zendy; J. Weissenbach | Zendy; Alexis Brice | Zendy; Bertrand Fontaine | Zendy

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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2

Author(s) -

Alexandra Dürr,

C.-S. Davoine,

Caroline Paternotte,

J. von Fellenberg,

S. Cogilnicean,

Paula Coutinho,

Catherine Lamy,

Stéphane Bourgeois,

J Prudhomme,

Clotilde Penet,

J.L. Mas,

JeanMarc Burgunder,

Jamïlé Hazan,

J. Weissenbach,

Alexis Brice,

Bertrand Fontaine

Publication year - 1996

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/119.5.1487

Subject(s) - hereditary spastic paraplegia , locus (genetics) , age of onset , genetics , genetic heterogeneity , anticipation (artificial intelligence) , genotype , haplotype , spastic , phenotype , asymptomatic , medicine , biology , pathology , gene , physical medicine and rehabilitation , disease , cerebral palsy , artificial intelligence , computer science

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 approximately 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.

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