Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

Journal Article · Mon Aug 14 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320600409· OSTI ID:426181

Speer, M C; Gaskell, P C; Robinson, L C ^[1]

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1. Duke Univ. Medical Center, Durham, NC (United States); and others

Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its {open_quotes}pure{close_quotes} form generally of autosomal dominant inheritance pattern. Hazen et al. reported tight linkage of a large FSP family to the highly polymorphic microsatellite marker D14S269 with z ({sub {theta}}) = 8.49 at {sub {theta}} = 0.00. They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification. 28 refs., 2 figs., 4 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 426181
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 60; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 14
NERVOUS SYSTEM DISEASES
PATIENTS
STATISTICS