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. 2006 Apr 5;8(2):387–402. doi: 10.1111/j.1750-3639.1998.tb00162.x

Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies

Maria Grazia Spillantini 1,✉, Thomas D Bird 2, Bernardino Ghetti 3
PMCID: PMC8098460  PMID: 9546295

Abstract

Frontotemporal dementia is a neurological disorder characterised by personality changes, deterioration of memory and executive functions as well as stereotypical behaviour. Sometimes a Parkinsonian syndrome is prominent. Several cases of frontotemporal dementia are hereditary and recently families have been identified where the disease is linked to chromosome 17q21–22. Although, there is clinical and neuropathological variability among and within families, they all consistently present a symptomathology that has led investigatores to name the disease “Frontotemporal Dementia and Parkinson‐ismlinked to chromosome 17.” Neuropathologically, these patients present with atrophy of frontal and temporal cortex as well as of basal ganglia and substantia nigra. In the majority of cases these features are accompanied by neuronal loss, gliosis and microtubule‐associated protein tau deposits which can be present in both neurones and glial cells. The distribution, structural and biochemical characteristics of the tau deposits differentiate them from those present in Alzheimer's disease, corticobasal degeneration, progressive supranuclear palsy and Pick's disease. No (β‐amyloid deposits are present. The clinical and neuropathological features of the disease in these families suggest that Frontotemporal Dementia and Parkinsonism linked to chromosome 17 is a distinct disorder. The presence of abundant tau deposits in the majority of these families define this disorder as a new tauopathy.

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