Article
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
European journal of human genetics : EJHG - 1 Aug 2017
Yogev Yuval, Perez Yonatan, Noyman Iris, Madegem Anwar Abu, Flusser Hagit, Shorer Zamir, Cohen Eugene, Kachko Leonid, Michaelovsky Analia, Birk Ruth, Koifman Arie, Drabkin Max, Wormser Ohad, Halperin Daniel, Kadir Rotem, Birk Ohad S
Abstract excerpt
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.