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Hereditary diffuse leucoencephalopathy with spheroids.

R Axelsson, M Röyttä, P Sourander

    Acta Psychiatrica Scandinavica. Supplementum
    |January 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

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    A new progressive neuropsychiatric disease, hereditary diffuse leucoencephalopathy with spheroids (HDLS), is identified. This autosomal dominant disorder affects multiple family members, causing dementia and neurological symptoms due to widespread white matter degeneration.

    Area of Science:

    • Neuroscience
    • Genetics
    • Pathology

    Background:

    • A genealogical study investigated a family with an uncharacteristic organic psychosis, revealing a previously unknown progressive neuropsychiatric disease.
    • The investigation traced 71 relatives across four generations to understand the disease's clinical, genetic, and morphological features.

    Observation:

    • Seventeen family members exhibited diverse psychiatric, neurological, and somatic symptoms, with onset between 8 and 60 years.
    • Disease progression varied, from rapid dementia and death within months to decades-long courses.
    • Morphological studies of four deceased members showed consistent widespread leucoencephalopathy in the central nervous system.

    Findings:

    • The leucoencephalopathy was characterized by myelin and axon degeneration, neuroaxonal spheroids, lipid-laden macrophages, and gliosis.

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  • Lesions predominantly affected bilateral frontal, fronto-parietal, and temporal white matter, correlating with forebrain dysfunction.
  • Genetic analysis suggested autosomal dominant inheritance with variable expressivity and possible full penetrance.

    • Implications:

    • The study proposes a new clinico-pathological entity: hereditary diffuse leucoencephalopathy with spheroids (HDLS).
    • HDLS presents a unique challenge in neurodegenerative disease research.
    • Further research may explore genetic, immunological, and endocrine factors contributing to HDLS pathogenesis.