Article
The phenotype of "pure" autosomal dominant spastic paraplegia.
Neurology - 1 Jul 1994
Dürr A, Brice A, Serdaru M, Rancurel G, Derouesné C, Lyon-Caen O, Agid Y, Fontaine B
Abstract excerpt
We studied 23 families with "pure" autosomal dominant spastic paraplegia. Examination of 142 at-risk individuals allowed identification of 70 patients, including 12 who were clinically affected but unaware of symptoms. The frequency of lower limb muscle weakness, decreased vibration sense, hyperreflexia in the upper limbs, and sphincter disturbances increased with the disease duration. The distribution of age at...
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