title: "Preclinical" MSA in definite Creutzfeldt-Jakob disease.
abstract: Multiple system atrophy (MSA) is a sporadic alpha-synucleinopathy clinically characterized by variable degrees of parkinsonism, cerebellar ataxia and autonomic dysfunction. The histopathological hallmark of MSA is glial cytoplasmic inclusion (GCI). It is considered to represent the earliest stage of the degenerative process in MSA and to precede neuronal degeneration. Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal, rapidly progressive dementia generally associated with ataxia, pyramidal and extrapyramidal symptoms and myoclonus. Definite diagnosis needs neuropathological demonstration of variable degrees of spongiform degeneration of neuropil, neuronal loss, astro- and microgliosis, and the presence of abnormal deposits of the misfolded prion protein PrP(res) . Both diseases, CJD and MSA are infrequent among neurodegenerative diseases. In the present report we describe clinical and neuropathological findings of a previously healthy 64-year-old woman who developed symptoms of classical CJD. At post mortem examination, the brain showed in addition to classical methionine/methionine PrP(res)  type 1 (MM1) sCJD changes and moderate Alzheimer-type pathology, features of "preclinical" MSA with minimal histopathological changes. These were characterized by discrete amounts of alpha-synuclein immunoreacive glial cytoplasmic inclusions in the striato-nigral system, isolated intraneuronal inclusions in pigmented neurons of the substantia nigra, as well as some vermiform intranuclear inclusions. To our knowledge, this is the first report on the coexistence of definite sCJD and "minimal changes" MSA in the same patient.
authors.affiliation: Neurological Tissue Bank, University of Barcelona SCT - Hospital Clínic, Barcelona, Spain.
authors.forename: Roberta
authors.initials: R
authors.lastname: Rodriguez-Diehl
authors.forename: Maria Jesus
authors.initials: MJ
authors.lastname: Rey
authors.forename: Alexandre
authors.initials: A
authors.lastname: Gironell
authors.forename: Elena
authors.initials: E
authors.lastname: Martinez-Saez
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer
authors.forename: Raquel
authors.initials: R
authors.lastname: Sánchez-Valle
authors.forename: Jordi
authors.initials: J
authors.lastname: Jagüe
authors.forename: Carlos
authors.initials: C
authors.lastname: Nos
authors.forename: Ellen
authors.initials: E
authors.lastname: Gelpi
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000150:complications* / Q000175:diagnosis*