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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

✍ Scribed by Danit Oz-Levi; Bruria Ben-Zeev; Elizabeth K. Ruzzo; Yuki Hitomi; Amir Gelman; Kimberly Pelak; Yair Anikster; Haike Reznik-Wolf; Ifat Bar-Joseph; Tsviya Olender; Anna Alkelai; Meira Weiss; Edna Ben-Asher; Dongliang Ge; Kevin V. Shianna; Zvulun Elazar; David B. Goldstein; Elon Pras; Doron Lancet


Book ID
119184401
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
941 KB
Volume
91
Category
Article
ISSN
0002-9297

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## Abstract The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mutations in the spastin gene on chromosome 2p. This disease is characterized by intra‐ and interfamilial phenotypic variation. To determine the predictive values of clinical signs and sy