Article
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Human mutation - 1 Apr 2010
Dick Katherine J, Eckhardt Matthias, Paisán-Ruiz Coro, Alshehhi Aisha Alkhayat, Proukakis Christos, Sibtain Naomi A, Maier Helena, Sharifi Reza, Patton Michael A, Bashir Wafa, Koul Roshan, Raeburn Sandy, Gieselmann Volkmar, Houlden Henry, Crosby Andrew H
Abstract excerpt
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we recently mapped a gene for a novel autosomal recessive form of HSP (SPG35) in which the spastic paraplegia was...
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