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Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11‐splice site in the <i>tau</i> gene

26 Jun 2001

Abstract excerpt

We report a case of familial frontotemporal dementia and parkinsonism characterized by early onset with mental retardation. The patient died at the age of 54; neuronal loss was severe in the frontal and temporal cortices, globus pallidus, substantia nigra, red nucleus and dentate nucleus. Anti-tau-positive fibrillary changes were observed in neurons and glia in these regions. Although the patient had 2 novel...

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PMID: 11456301
DOI: 10.1002/ana.1083

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