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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 …
Competing interests: None.
Funding: This study was supported by the Kompetenznetz Parkinson (01G19901), NGFN (01GS0115, NV-SO2T9), the BONFOR Program of the University Bonn the German Brain Bank (01GI0505) and the “Deutsche Parkinson Vereinigung.”
Patient consent: Obtained.
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