TY - JOUR
T1 - Creutzfeldt–Jakob Disease Misdiagnosed as Multiple System Atrophy
AU - Martin, Nicholas B.
AU - Koga, Shunsuke
AU - Appleby, Brian S.
AU - Sekiya, Hiroaki
AU - Dickson, Dennis W.
N1 - Publisher Copyright:
© 2023 International Parkinson and Movement Disorder Society.
PY - 2023/3
Y1 - 2023/3
N2 - Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar syndromes. Although consensus criteria have been widely used to diagnose MSA, accurate clinical diagnosis remains challenging. Other neurodegenerative disorders, such as Lewy body disease, can mimic MSA. Objectives: We described clinical and neuropathologic findings of two patients with Creutzfeldt–Jakob disease (CJD) who had antemortem clinical diagnoses of MSA. Methods: The brain bank for neurodegenerative disorders was queried for cases with a clinical diagnosis of MSA, but neuropathologic findings of CJD. Results: Case 1 was a 55-year-old man with a 6-month history of orthostatic hypotension, parkinsonism, cerebellar ataxia, bradyphrenia, and memory impairment. Case 2 was a 65-year-old man who had a 5-year history of cerebellar ataxia, parkinsonism, and cognitive impairment, as well as a 7-year history of dream enactment behavior. Neither case had characteristic α-synuclein immunoreactive neuronal or glial inclusions typical of MSA. Instead, they had spongiform encephalopathy with neuronal loss and gliosis with prion protein-immunoreactive kuru-like plaques. Genetic analyses in case 1 had wild-type PRNP, whereas case 2 revealed a 4-octapeptide repeat insertion in PRNP. Conclusions: Even when clinical features suggest MSA, CJD should also be considered if the progression is rapid or the disease course is atypical, such as the absence of autonomic dysfunction for an extended period.
AB - Background: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar syndromes. Although consensus criteria have been widely used to diagnose MSA, accurate clinical diagnosis remains challenging. Other neurodegenerative disorders, such as Lewy body disease, can mimic MSA. Objectives: We described clinical and neuropathologic findings of two patients with Creutzfeldt–Jakob disease (CJD) who had antemortem clinical diagnoses of MSA. Methods: The brain bank for neurodegenerative disorders was queried for cases with a clinical diagnosis of MSA, but neuropathologic findings of CJD. Results: Case 1 was a 55-year-old man with a 6-month history of orthostatic hypotension, parkinsonism, cerebellar ataxia, bradyphrenia, and memory impairment. Case 2 was a 65-year-old man who had a 5-year history of cerebellar ataxia, parkinsonism, and cognitive impairment, as well as a 7-year history of dream enactment behavior. Neither case had characteristic α-synuclein immunoreactive neuronal or glial inclusions typical of MSA. Instead, they had spongiform encephalopathy with neuronal loss and gliosis with prion protein-immunoreactive kuru-like plaques. Genetic analyses in case 1 had wild-type PRNP, whereas case 2 revealed a 4-octapeptide repeat insertion in PRNP. Conclusions: Even when clinical features suggest MSA, CJD should also be considered if the progression is rapid or the disease course is atypical, such as the absence of autonomic dysfunction for an extended period.
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U2 - 10.1002/mdc3.13654
DO - 10.1002/mdc3.13654
M3 - Article
AN - SCOPUS:85146934431
SN - 2330-1619
VL - 10
SP - 496
EP - 500
JO - Movement Disorders Clinical Practice
JF - Movement Disorders Clinical Practice
IS - 3
ER -