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Chromosome 17-linked dementias

K C Wilhelmsen1

  • 1Department of Neurology, University of California, San Francisco, USA. kirk@wildtype.ucsf.edu

Cellular and Molecular Life Sciences : CMLS
|October 29, 1998
PubMed
Summary
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Researchers identified a mutation linked to chromosome 17 dementias, a common cause of frontotemporal dementia. This discovery offers insights into neurodegenerative processes in these heterogeneous disorders.

Area of Science:

  • Neuroscience
  • Genetics

Background:

  • Chromosome 17-linked dementias are a significant cause of dementia, estimated between 2-20% of all cases.
  • These syndromes are clinically and pathologically heterogeneous, often referred to as frontotemporal dementia or dementia lacking distinctive features.

Purpose of the Study:

  • To identify the specific genetic mutation responsible for chromosome 17-linked dementias.
  • To gain broad insight into the neurodegenerative processes underlying these disorders.

Main Methods:

  • Linkage analysis was employed to define chromosome 17-linked dementias.
  • Further molecular genetic techniques were used to pinpoint the causative mutation (details not provided in abstract).

Main Results:

  • A specific mutation linked to chromosome 17 dementias has been identified.

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  • This mutation is associated with a group of clinically and pathologically heterogeneous disorders.

    • Conclusions:

    • The identification of this mutation provides a key to understanding the pathogenesis of chromosome 17-linked dementias.
    • This finding may illuminate broader mechanisms of neurodegeneration relevant to various dementia subtypes.