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17q21 Finally Defined

Roger N. Rosenberg, MD, Editor

Arch Neurol. 2007;64(1):18-19.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Frontotemporal dementia (FTD) is the second most common form of dementia, second to Alzheimer disease, in persons under 65 years of age. It manifests as a clinically progressive disorder with language impairment, affecting expression and comprehension; behavioral and personality changes; perseveration; apathy; irritability; and disinhibition; progressing to general cognitive impairment.^1-2 It is associated with significant atrophy with neuronal degeneration in the frontal and/or temporal lobes. Frontotemporal dementia has been described with the presence of ubiquitin-immunoreactive neuronal inclusions without tau pathology and is referred to as FTD with ubiquitin inclusions (FTDU).^3-4 The composition of the neuronal cytoplasmic inclusions, other than being ubiquinated, is not known.^3-4 Mutations in the gene encoding the microtubule-associated protein tau gene (MAPT) linked to chromosome 17q21 have been known to produce familial FTD associated with parkinsonism, amyotrophy, disinhibition, and dementia (FTDP-17).⁵ The MAPT mutations are associated with cytoplasmic neurofibrillary inclusions . . . [Full Text of this Article]

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