Article
Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene.
Acta neuropathologica - 1 Jan 2000
Sasaki A, Miyanaga K, Ototsuji M, Iwaki A, Iwaki T, Takahashi S, Nakazato Y
Abstract excerpt
We report the autopsy cases of two brothers which are pathologically compatible with Pelizaeus-Merzbacher disease (PMD). Both patients had a late onset (at the ages of 29 and 42 years) and chronic neurological symptoms including tremor, ataxia and dementia. The T2-weighted magnetic resonance imaging of the younger brother demonstrated increased signal areas with sparing of small areas in the cerebral white...
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