Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

doi:10.1212/wnl.47.5.1333

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Article

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

Neurology - 1 Nov 1996

Nance M A, Boyadjiev S, Pratt V M, Taylor S, Hodes M E, Dlouhy S R

Abstract excerpt

A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutation, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) His mother, heterozygous for the mutation, developed progressive personality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse s...

Topics

Adult
Age of Onset
Brain
Diffuse Cerebral Sclerosis of Schilder
Female
Humans
Male
Middle Aged
Mutation
Proteolipids

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