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JCI online early table of contents: Jan. 9, 2012
Date:1/9/2012

plegias

Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive weakness and spasticity (stiffness) of the legs. Mutations in more than 30 genes have been linked to HSPs. A team of researchers led by Stephan Zchner, at the University of Miami Miller School of Medicine, Miami; Evan Reid, at the University of Cambridge, United Kingdom; and Antonio Orlacchio, at the Centro Europeo di Ricerca sul CervelloIstituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Italy has now associated mutations in the gene reticulon 2 with hereditary spastic paraplegia type 12. In addition to identifying a new HSP-associated gene, the team was able to uncover how the mutations in reticulon 2 are likely to cause neurodegeneration, providing new insight into this diverse group of inherited disorders.

TITLE: Mutations in the ER-shaping protein cause the axon-degenerative disorder hereditary spastic paraplegia type 12

AUTHOR CONTACT:
Stephan Zchner
University of Miami Miller School of Medicine, Miami, Florida, USA.
Phone: 305-243-2281; Fax: 305-243-2703; E-mail: szuchner@med.miami.edu.

Evan Reid
University of Cambridge, Cambridge Institute for Medical Research, Cambridge, United Kingdom.
Phone: 44-1223-762602; Fax: 44-1223-762640; E-mail: ealr4@cam.ac.uk.

Antonio Orlacchio
Centro Europeo di Ricerca sul CervelloIstituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy.
Phone: 39-06-501703308; Fax: 39-06-501703312; E-mail: a.orlacchio@hsantalucia.it.

View this article at:
http://www.jci.org/articles/view/60560?key=76757b11cc31e268a79e

ONCOLOGY: KRAS provides maintenance for pancreatic cance
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Contact: Karen Honey
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Journal of Clinical Investigation
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