Genetic and phenotypic characterization of complex hereditary spastic paraplegia

@inproceedings{Kara2016GeneticAP,
  title={Genetic and phenotypic characterization of complex hereditary spastic paraplegia},
  author={Eleanna Kara and Arianna Tucci and Claudia Manzoni and David S Lynch and Marilena Elpidorou and Conceiç{\~a}o Bettencourt and Viorica Chelban and Andreea Manole and Sherifa Ahmed Hamed and Nourelhoda A. Haridy and Monica Federoff and Elisavet Preza and Deborah S. Hughes and Alan M. Pittman and Zane Jaunmuktane and Sebastian Brandner and Georgia Xiromerisiou and Sarah Wiethoff and Lucia V. Schottlaender and Christos Proukakis and Huw R Morris and Tom T Warner and Kailash P Bhatia and L. V. Prasad Korlipara and Andrew Singleton and John Hardy and Nicholas Wood and Patrick A. Lewis and Henry Houlden},
  booktitle={Brain : a journal of neurology},
  year={2016}
}
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 more than 70 loci in total. Complex recessive spastic paraplegias have in the past… CONTINUE READING
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