Article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain : a journal of neurology - 1 Mar 2017
Ahmed Mustafa Y, Al-Khayat Aisha, Al-Murshedi Fathiya, Al-Futaisi Amna, Chioza Barry A, Pedro Fernandez-Murray J, Self Jay E, Salter Claire G, Harlalka Gaurav V, Rawlins Lettie E, Al-Zuhaibi Sana, Al-Azri Faisal, Al-Rashdi Fatma, Cazenave-Gassiot Amaury, Wenk Markus R, Al-Salmi Fatema, Patton Michael A, Silver David L, Baple Emma L, McMaster Christopher R, Crosby Andrew H
Abstract excerpt
Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with...
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