Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17

J. R. Murrell, D. Koller, Tatiana Foroud, M. Goedert, M. G. Spillantini, Howard Edenberg, Martin Farlow, Bernardino Ghetti

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

An autosomal dominant presenile dementia affecting 39 individuals in a seven-generation, 383-member pedigree has been studied at Indiana University. In the affected members of this family, clinical symptoms occurred early in life, with an average age at onset of 48.8 years. The presenting clinical features include disequilibrium, neck stiffness, dysphagia, and memory loss. As the disease progresses, further cognitive decline, superior-gaze palsy, and dystaxia also are observed. The average duration from onset of symptoms to death is ~10 years. Neuropathologic studies of nine affected individuals showed neuronal loss in several areas of the CNS, as well as argentophilic tau-immunopositive inclusions in neurons and in oligodendroglia. A limited genomic screen by use of DNA samples from 28 family members localized the gene for this disorder to a 3-cM region on chromosome 17, between the markers THRA1 and D17S791. The gene for tau also was analyzed, through samples from the family.

Original languageEnglish
Pages (from-to)1131-1138
Number of pages8
JournalAmerican Journal of Human Genetics
Volume61
Issue number5
DOIs
StatePublished - Nov 1997

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Frontotemporal Dementia
Chromosomes, Human, Pair 17
Oligodendroglia
Memory Disorders
Pedigree
Deglutition Disorders
Age of Onset
Paralysis
Genes
Alzheimer Disease
Neck
Neurons
DNA

ASJC Scopus subject areas

  • Genetics

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Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. / Murrell, J. R.; Koller, D.; Foroud, Tatiana; Goedert, M.; Spillantini, M. G.; Edenberg, Howard; Farlow, Martin; Ghetti, Bernardino.

In: American Journal of Human Genetics, Vol. 61, No. 5, 11.1997, p. 1131-1138.

Research output: Contribution to journalArticle

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