“Preclinical” MSA in definite Creutzfeldt‐Jakob disease |
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Authors: | Roberta Rodriguez‐Diehl Maria Jesus Rey Alexandre Gironell Elena Martinez‐Saez Isidre Ferrer Raquel Sánchez‐Valle Jordi Jagüe Carlos Nos Ellen Gelpi |
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Institution: | 1. Neurological Tissue Bank, University of Barcelona SCT – Hospital Clínic;2. Department of Neurology, Santa Casa Hospital Complex, UFSCPA, Porto Alegre, Brazil;3. Department of Neurology, Hospital de Sant Pau;4. Vall d'Hebrón Research Institute and Pathology Department;5. Institut de Neuropatologia, Hospital Universitari de Bellvitge;6. CJD Unit;7. Alzheimer Disease and Other Cognitive Disorders Unit, Hospital Clínic;8. General Subdirectorate of Surveillance and Response to Emergencies in Public Health, Department of Public Health in Catalonia, Barcelona, Spain |
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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 PrPres. 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 PrPres 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. |
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Keywords: | alpha‐synuclein Creutzfeldt‐Jakob disease minimal change MSA preclinical MSA prion protein |
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