A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34 - PubMed (original) (raw)

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34

B Fontaine et al. Am J Hum Genet. 2000 Feb.

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3. 03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps.

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Figures

Figure 1

Figure 1

Pedigree of family SAL-612. Affected individuals are indicated by blackened symbols. The haplotype segregating with the disease is boxed. Recombination events are noted by an arrow. Reconstructed genotypes are in parentheses. The hatched symbols represent individuals considered, for purposes of LOD-score calculations, to be of undetermined clinical status: patient II:5 in family SAL-612, who, on the basis of her medical history, was considered to be affected but who was never examined by one of us; and individual III:5, who was 50 years old and who had increased and spread reflexes in the lower limbs and an extensor plantar response (by Babinski sign) but no spasticity.

Figure 2

Figure 2

Genetic linkage to chromosome 2q24-q34 in family SAL-612. Multipoint LOD scores between chromosome 2q24-q34 markers and HSP.

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References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for HSP [MIM 182600, MIM 182601, MIM 270800, MIM 312900, MIM 312920, MIM 600363, MIM 601162 MIM 602783, and MIM 603563])

References

    1. Behan WMH, Maia M (1974) Strümpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37:8–20 - PMC - PubMed
    1. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973–983 - PubMed
    1. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152–154 - PubMed
    1. Dürr A, Brice A, Serdaru M, Rancurel G, Derouesné C, Lyon-Caen O, Agid Y, et al (1994) The phenotype of “pure” autosomal dominant spastic paraplegia. Neurology 44:1274–1277 - PubMed
    1. Dürr A, Davoine C-S, Paternotte C, von Fellenberg J, Cogilnicean S, Coutinho P, Lamy C, et al (1996) Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 119:1487–1496 - PubMed

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