Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by a spasticity of the lower limbs. A locus causing AD-FSP (FSP1) has been previously mapped to chromosome 14q. We now report linkage of a second AD-FSP locus (FSP2) to chromosome 2p21-p24 in five of seven French families and one large Dutch pedigree. The analysis of recombination events and multipoint linkage place FSP2 within a 4 cM interval flanked by loci D2S400 and D2S367.
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PMID:Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. 783 13

"Familial spastic paraplegia" (FSP) refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower extremity spasticity. We evaluated 126 members of a large kindred, including 31 affected subjects, in which FSP was transmitted as a stereotyped, autosomal dominant disorder that showed complete genetic penetrance. Affected subjects developed insidiously progressive gait disturbance between ages 12 and thirty-five. Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus. Using genetic linkage analysis, we excluded the FSP1 locus on chromosome 14q11.2 as the disease locus in this family. We present the clinical and genetic features of FSP type I, including the age-adjusted risk of developing the disorder in this family.
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PMID:Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. 785 34

Autosomal dominant familial spastic paraparesis (AD-FSP) is a genetically heterogeneous disorder of the central nervous system characterized by a progressive spasticity of the legs. One gene causing AD-FSP (FSP1) has recently been mapped to chromosome 14q, another gene (FSP2) to chromosome 2p, and a third gene (FSP3) to chromosome 15q. We now report a large Dutch family with AD-FSP without linkage to any of these chromosomes, providing evidence for a fourth locus (FSP4).
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PMID:Familial spastic paraplegia: evidence for a fourth locus. 921 50