Article
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
Annals of neurology - 1 Sept 2005
Warshawsky Ilka, Rudick Richard A, Staugaitis Susan M, Natowicz Marvin R
Abstract excerpt
We report a 49-year-old woman with a history of progressive gait disturbance, white matter disease, and cerebrospinal fluid immunoglobulin abnormalities who met criteria for primary progressive multiple sclerosis and whose son died at age 10 years of an unknown congenital neurodevelopmental disorder. Sequencing of the proteolipid protein 1 gene showed a novel mutation, Leu30Arg (c.89TG), in the mother and son....
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