Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

A. Hentati, M.A. Pericak-Vance, W-Y. Hung, S. Belal, Nigel Laing, R-M Boustany, F. Hentati, M.B. Hamida, T. Siddique

Research output: Contribution to journalArticle

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Abstract

'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.
Original languageEnglish
Pages (from-to)1263-1267
JournalHuman Molecular Genetics
Volume3
Issue number8
DOIs
Publication statusPublished - 1994

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Chromosomes, Human, Pair 8
Genetic Loci
Genetic Heterogeneity
Paraplegia
Genetic Markers
Nerve Degeneration
Tunisia
Genetic Linkage
Motor Neurons
Neurodegenerative Diseases
Lower Extremity
Genes
Recessive Spastic paraplegia type 5A

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Hentati, A. ; Pericak-Vance, M.A. ; Hung, W-Y. ; Belal, S. ; Laing, Nigel ; Boustany, R-M ; Hentati, F. ; Hamida, M.B. ; Siddique, T. / Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 8. pp. 1263-1267.
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abstract = "'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.",
author = "A. Hentati and M.A. Pericak-Vance and W-Y. Hung and S. Belal and Nigel Laing and R-M Boustany and F. Hentati and M.B. Hamida and T. Siddique",
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Hentati, A, Pericak-Vance, MA, Hung, W-Y, Belal, S, Laing, N, Boustany, R-M, Hentati, F, Hamida, MB & Siddique, T 1994, 'Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity' Human Molecular Genetics, vol. 3, no. 8, pp. 1263-1267. https://doi.org/10.1093/hmg/3.8.1263

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. / Hentati, A.; Pericak-Vance, M.A.; Hung, W-Y.; Belal, S.; Laing, Nigel; Boustany, R-M; Hentati, F.; Hamida, M.B.; Siddique, T.

In: Human Molecular Genetics, Vol. 3, No. 8, 1994, p. 1263-1267.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

AU - Hentati, A.

AU - Pericak-Vance, M.A.

AU - Hung, W-Y.

AU - Belal, S.

AU - Laing, Nigel

AU - Boustany, R-M

AU - Hentati, F.

AU - Hamida, M.B.

AU - Siddique, T.

PY - 1994

Y1 - 1994

N2 - 'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.

AB - 'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to five RFSP families from Tunisia. In four of these five families tight linkage of the RFSP locus was established to the chromosome 8 markers, D8S260, D8S166, D8S285, FLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSF. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.

U2 - 10.1093/hmg/3.8.1263

DO - 10.1093/hmg/3.8.1263

M3 - Article

VL - 3

SP - 1263

EP - 1267

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

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