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Article

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain : a journal of neurology - 1 Jul 2016

Kara Eleanna, Tucci Arianna, Manzoni Claudia, Lynch David S, Elpidorou Marilena, Bettencourt Conceicao, Chelban Viorica, Manole Andreea, Hamed Sherifa A, Haridy Nourelhoda A, Federoff Monica, Preza Elisavet, Hughes Deborah, Pittman Alan, Jaunmuktane Zane, Brandner Sebastian, Xiromerisiou Georgia, Wiethoff Sarah, Schottlaender Lucia, Proukakis Christos, Morris Huw, Warner Tom, Bhatia Kailash P, Korlipara L V Prasad, Singleton Andrew B, Hardy John, Wood Nicholas W, Lewis Patrick A, Houlden Henry

Abstract excerpt

The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with...

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Identifiers

PMID: 27217339
DOI: 10.1093/brain/aww111
PMCID: PMC4939695

Genes

SPG11
SPG7
ZFYVE26
DNMT1
TPP1

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