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Related Experiment Videos

Hereditary multi-infarct dementia.

V Sonninen1, M L Savontaus

  • 1Department of Neurology, University of Turku, Finland.

European Neurology
|January 1, 1987
PubMed
Summary
This summary is machine-generated.

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Genome·2002
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[Toxoplasma encephalitis in a previously healthy man].

Duodecim; laaketieteellinen aikakauskirja·2002
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[Hereditary neuropathy with liability to pressure palsies--a more common neuropathy than generally thought].

Duodecim; laaketieteellinen aikakauskirja·2002
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[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].

Duodecim; laaketieteellinen aikakauskirja·2001
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A signal, from human mtDNA, of postglacial recolonization in Europe.

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Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.

Stroke·2001

This study details a rare inherited neurological disorder in a family, characterized by recurrent strokes and cognitive decline in young adults. Autosomal dominant inheritance and white matter infarcts are key features.

Area of Science:

  • Neurology
  • Genetics
  • Neuroscience

Background:

  • This research investigates a familial neurological disease presenting with recurrent strokes and neuropsychiatric symptoms.
  • The condition affects relatively young adult individuals, impacting both sexes within the same extended family.

Observation:

  • The disease exhibits autosomal dominant transmission with a late onset.
  • Clinical manifestations include relapsing strokes and neuropsychiatric symptoms.
  • Cerebrovascular findings include occlusive infarcts in white matter, often reduced in volume, observable via CT scans.

Findings:

  • The study identified and analyzed 16 patients from a single extended family with this distinct neurological entity.
  • In 13 family members, the diagnosis was certain, with 3 additional probable cases.

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  • Key pathological findings include white matter infarcts and reduced white matter volume.

    • Implications:

    • This work contributes to understanding inherited cerebrovascular diseases and their genetic underpinnings.
    • Identifying specific genetic factors could lead to targeted diagnostics and therapies for similar conditions.
    • The findings highlight the importance of neuroimaging in diagnosing complex neurological disorders.