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Definite multiple system atrophy in a German family
  1. U Wüllner1,
  2. I Schmitt1,
  3. M Kammal2,
  4. H A Kretzschmar3,
  5. M Neumann3
  1. 1
    Department of Neurology, University Bonn, Bonn, Germany
  2. 2
    Department of Legal Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany
  3. 3
    Center for Neuropathology and Prion Research, Ludwig-Maximilians University, Munich, Germany
  1. Dr U Wüllner, Department of Neurology, University Bonn, Sigmund Freud Str. 25, D-53105 Bonn, Germany; wuellner{at}uni-bonn.de

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Multiple system atrophy (MSA) is a presumed sporadic neurodegenerative disorder of unknown aetiology, clinically characterised by poorly levodopa responsive parkinsonism and/or cerebellar dysfunction in combination with autonomic failure.1 We previously identified a family with a typical MSA phenotype in two successive generations.2 One affected patient of that pedigree, now deceased at age 82, and postmortem examination of the brain revealed findings typical of definite MSA.3 Severe atrophy of the putamen (fig 1A) and depigmentation of the substantia nigra and pontine and cerebellar atrophy were found upon macroscopic …

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