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Related Experiment Videos

Familial primary progressive aphasia.

Thomas A Krefft1, Neill R Graff-Radford, Dennis W Dickson

  • 1Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, Florida 32224, USA.

Alzheimer Disease and Associated Disorders
|June 10, 2003
PubMed
Summary
This summary is machine-generated.

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This study details a rare family with hereditary primary progressive aphasia (PPA), where all affected siblings presented with typical PPA symptoms. Genetic analysis ruled out known tau mutations, suggesting a novel genetic basis for this form of PPA.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Primary progressive aphasia (PPA) is a neurodegenerative disorder characterized by progressive language decline.
  • Hereditary forms of PPA are rare, with limited reported families and genetic associations.
  • Some familial cases linked to chromosome 17 mutations differ from typical PPA due to early non-language symptoms.

Purpose of the Study:

  • To describe the clinical, pathological, and genetic findings in a family with typical primary progressive aphasia.
  • To investigate the potential genetic underpinnings of hereditary PPA in this unique family.

Main Methods:

  • Clinical assessment of three affected siblings with PPA.
  • Neuropathological examination of one affected individual.

Related Experiment Videos

  • DNA analysis of the proband to screen for known tau gene mutations.

    • Main Results:

    • All three siblings presented with classic PPA, beginning with word-finding difficulties and anomia, with language impairment predominating for over two years.
    • Neuropathology revealed "dementia lacking distinctive histopathology" with ubiquitin-positive cortical neurons.
    • Genetic analysis excluded mutations in known tau gene exons (1-5, 7, 9-13).

    Conclusions:

    • This family represents the first reported instance of hereditary PPA where all affected members exhibit the typical PPA syndrome.
    • The absence of known tau mutations suggests a novel genetic cause for this form of familial PPA.
    • Further research is needed to identify the specific genetic mutation responsible for this hereditary PPA.