Over 100 mutations in the presenilin-1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Abeta was identified in leptomeningeal vessels and in cerebral plaques.
View Article and Find Full Text PDFCase Report: A 4-year-old girl had a large midline cerebellar solid and cystic mass partially attached to the meninges. The original diagnosis was glioblastoma multiforme and she was treated by a gross-total surgical resection followed by chemotherapy and radiation therapy to the posterior fossa during the ensuing 14 months. She has received no further therapy and appears to be doing well 12 years later.
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