Article
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
BMC neurology - 30 Oct 2015
Sambuughin Nyamkhishig, Goldfarb Lev G, Sivtseva Tatiana M, Davydova Tatiana K, Vladimirtsev Vsevolod A, Osakovskiy Vladimir L, Danilova Al'bina P, Nikitina Raisa S, Ylakhova Anastasia N, Diachkovskaya Margarita P, Sundborger Anna C, Renwick Neil M, Platonov Fyodor A, Hinshaw Jenny E, Toro Camilo
Abstract excerpt
BACKGROUND: Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and genetically heterogeneous disorders linked to over 70 different loci and more than 60 recognized disease-causing genes. A heightened vulnerability to disruption of various cellular processes inherent to the unique function and morphology of corticospinal neurons may account, at least in part, for the genetic heterogeneity....
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