Article
Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
Neuropediatrics - 1 Aug 1998
Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu A N, Ozgüç M
Abstract excerpt
Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourteen families were classified as the "complicated" types which manifested with mental retardation and cerebellar...
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