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

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, PLAT, and D8S279. The RFSP locus in the fifth family was not linked to these markers which provided evidence of genetic locus heterogeneity in RFSP. Identification of the RFSP gene on chromosome 8 will help in understanding the genetic factors in motor neuron degeneration.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

doi

10.1093/hmg/3.8.1263

subject

Has Abstract

pub_date

1994-08-01 00:00:00

pages

1263-7

issue

8

eissn

0964-6906

issn

1460-2083

journal_volume

3

pub_type

杂志文章

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