Article
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy.
Journal of neuropathology and experimental neurology - 1 Dec 2000
Takao M, Benson M D, Murrell J R, Yazaki M, Piccardo P, Unverzagt F W, Davis R L, Holohan P D, Lawrence D A, Richardson R, Farlow M R, Ghetti B
Abstract excerpt
Mutations in the Neuroserpin gene have been reported to cause familial presenile dementia. We describe a new family in which the S52R Neuroserpin mutation is associated with progressive myoclonus epilepsy in 2 siblings. The proband presented myoclonus and epilepsy at age 24, his brother and mother presented a similar disorder when they were 25. A clinical diagnosis of progressive myoclonus epilepsy was made on...
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