Frontotemporal dementia and Parkinsonism linked to chromosome 17

A new group of tauopathies

Maria Grazia Spillantini, Thomas D. Bird, Bernardino Ghetti

Research output: Contribution to journalArticle

344 Citations (Scopus)

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 Parkinsonism linked 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.

Original languageEnglish
Pages (from-to)387-402
Number of pages16
JournalBrain Pathology
Volume8
Issue number2
StatePublished - 1998

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Tauopathies
Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Pick Disease of the Brain
Progressive Supranuclear Palsy
Chromosomes, Human, Pair 22
Gliosis
Microtubule-Associated Proteins
Executive Function
Amyloid Plaques
Frontal Lobe
Substantia Nigra
Temporal Lobe
Basal Ganglia
Nervous System Diseases
Neuroglia
Atrophy
Names
Personality

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine

Cite this

Frontotemporal dementia and Parkinsonism linked to chromosome 17 : A new group of tauopathies. / Spillantini, Maria Grazia; Bird, Thomas D.; Ghetti, Bernardino.

In: Brain Pathology, Vol. 8, No. 2, 1998, p. 387-402.

Research output: Contribution to journalArticle

Spillantini, Maria Grazia ; Bird, Thomas D. ; Ghetti, Bernardino. / Frontotemporal dementia and Parkinsonism linked to chromosome 17 : A new group of tauopathies. In: Brain Pathology. 1998 ; Vol. 8, No. 2. pp. 387-402.
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