Literature DB >> 7849714

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.

A Hentati1, M A Pericak-Vance, F Lennon, B Wasserman, F Hentati, T Juneja, M H Angrist, W Y Hung, R M Boustany, S Bohlega.   

Abstract

'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(theta) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P > 0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

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Year:  1994        PMID: 7849714     DOI: 10.1093/hmg/3.10.1867

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  14 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

Authors:  M P Dubé; M A Mlodzienski; Z Kibar; M R Farlow; G Ebers; P Harper; E H Kolodny; G A Rouleau; D A Figlewicz
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 3.  Pure hereditary spastic paraplegia.

Authors:  E Reid
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M Rhodes; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.

Authors:  E Reid; A M Dearlove; O Osborn; M T Rogers; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

6.  Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

Authors:  O Heinzlef; C Paternotte; F Mahieux; J F Prud'homme; J Dien; M Madigand; J Pouget; J Weissenbach; E Roullet; J Hazan
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

7.  Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Authors:  P Hedera; S Rainier; D Alvarado; X Zhao; J Williamson; B Otterud; M Leppert; J K Fink
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

8.  Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

Authors:  C Paternotte; D Rudnicki; C Fizames; C S Davoine; D Mavel; A Dürr; D Samson; C Marquette; D Muselet; N Vega-Czarny; N Drouot; T Voit; B Fontaine; G Gyapay; G Auburger; J Weissenbach; J Hazan
Journal:  Genome Res       Date:  1998-11       Impact factor: 9.043

Review 9.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 10.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

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