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 Züchner, 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 Cervello-Istituto 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
University of Miami Miller School of Medicine, Miami, Florida, USA.
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University of Cambridge, Cambridge Institute for Medical Research, Cambridge, United Kingdom.
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Centro Europeo di Ricerca sul Cervello-Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy.
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