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Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
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Article Abstract
"Familial spastic paraplegia"(FSP)refers to clinically and genetically divers 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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clubfoot as related to neurologic disease
gait disorder
genetic linkage
genetic neurologic disorders
paraparesis,familial spastic
vibratory sensation,abnormal

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