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Publication Detail
Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy?
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Lhatoo SD, Perunovic B, Love S, Houlden H, Campbell MJ
  • Publication date:
    2003
  • Pagination:
    223, 226
  • Journal:
    Eur Neurol
  • Volume:
    49
  • Issue:
    4
  • Status:
    Published
  • Country:
    Switzerland
  • Print ISSN:
    0014-3022
  • PII:
    70189
  • Language:
    eng
  • Keywords:
    Adolescent, Adult, Brain, Calcinosis, Child, Female, Humans, Immunohistochemistry, Inclusion Bodies, Male, Middle Aged, Nerve Tissue Proteins, Neurodegenerative Diseases, Neurofibrillary Tangles, Neuroglia, Pedigree, Plaque, Amyloid, Synucleins, Tomography, X-Ray Computed, alpha-Synuclein
Abstract
Familial idiopathic brain calcification (FIBC) is a rare disorder characterised by autosomal dominant transmission, adult onset cerebellar and/or extrapyramidal features and idiopathic calcification of the brain. We present a family with FIBC where pathological studies showed that the proband had alpha-synuclein-immunopositive glial and neuronal cytoplasmic inclusions in oligodendrocytes in the putamen, midbrain and pons. This may represent a new and familial alpha-synuclein disorder causing a predominantly extrapyramidal picture similar to multisystem atrophy.
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Department of Neuromuscular Diseases
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