RATIONALE: Creutzfeldt-Jakob disease (CJD) with a point mutation of valine to isoleucine at codon 180 of the prion protein gene (V180I) is the most frequent form of genetic CJD in Japan. However, peripheral nerve involvement, especially cardiac sympathetic denervation, has not been investigated in cases with V180I genetic CJD.We herein report a genetically confirmed case of V180I genetic CJD presenting with parkinsonism and cardiac sympathetic nerve denervation. PATIENT CONCERNS: The patient was a 79-year-old Japanese woman who presented with subacute progressive gait disturbance and cognitive impairment. Clinical diagnosis of Parkinson's disease (PD) with mild cognitive impairment was initially suspected based on parkinsonism, such as bradykinesia, rigidity and tremor, and reduced accumulation of cardiac meta-iodobenzylguanidine (MIBG) scintigraphy. INTERVENTIONS: Based on parkinsonism and impaired cardiac MIBG findings, levodopa/decarboxylase inhibitor was administered up to 300 mg/day; however, her symptoms were not improved. OUTCOMES: Her motor and cognitive function progressively deteriorated. DIAGNOSIS: Although the patient had no family history of CJD, genetic CJD was diagnosed according to extensive hyperintensities in the bilateral cortices on diffusion-weighted magnetic resonance images, positive tau protein and 14-3-3 protein in the cerebrospinal fluid and a V180I mutation with methionine homozygosity at codon 129 by prion protein gene analysis. LESSONS: We should be aware that reduced uptake of cardiac MIBG scintigraphy in patients presenting with parkinsonism cannot confirm a diagnosis of PD. CJD should be considered when patients show a rapid progressive clinical course with atypical manifestations of PD.
RATIONALE: Creutzfeldt-Jakob disease (CJD) with a point mutation of valine to isoleucine at codon 180 of the prion protein gene (V180I) is the most frequent form of genetic CJD in Japan. However, peripheral nerve involvement, especially cardiac sympathetic denervation, has not been investigated in cases with V180I genetic CJD.We herein report a genetically confirmed case of V180I genetic CJD presenting with parkinsonism and cardiac sympathetic nerve denervation. PATIENT CONCERNS: The patient was a 79-year-old Japanese woman who presented with subacute progressive gait disturbance and cognitive impairment. Clinical diagnosis of Parkinson's disease (PD) with mild cognitive impairment was initially suspected based on parkinsonism, such as bradykinesia, rigidity and tremor, and reduced accumulation of cardiac meta-iodobenzylguanidine (MIBG) scintigraphy. INTERVENTIONS: Based on parkinsonism and impaired cardiac MIBG findings, levodopa/decarboxylase inhibitor was administered up to 300 mg/day; however, her symptoms were not improved. OUTCOMES: Her motor and cognitive function progressively deteriorated. DIAGNOSIS: Although the patient had no family history of CJD, genetic CJD was diagnosed according to extensive hyperintensities in the bilateral cortices on diffusion-weighted magnetic resonance images, positive tau protein and 14-3-3 protein in the cerebrospinal fluid and a V180I mutation with methionine homozygosity at codon 129 by prion protein gene analysis. LESSONS: We should be aware that reduced uptake of cardiac MIBG scintigraphy in patients presenting with parkinsonism cannot confirm a diagnosis of PD. CJD should be considered when patients show a rapid progressive clinical course with atypical manifestations of PD.
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Authors: Ian G McKeith; Bradley F Boeve; Dennis W Dickson; Glenda Halliday; John-Paul Taylor; Daniel Weintraub; Dag Aarsland; James Galvin; Johannes Attems; Clive G Ballard; Ashley Bayston; Thomas G Beach; Frédéric Blanc; Nicolaas Bohnen; Laura Bonanni; Jose Bras; Patrik Brundin; David Burn; Alice Chen-Plotkin; John E Duda; Omar El-Agnaf; Howard Feldman; Tanis J Ferman; Dominic Ffytche; Hiroshige Fujishiro; Douglas Galasko; Jennifer G Goldman; Stephen N Gomperts; Neill R Graff-Radford; Lawrence S Honig; Alex Iranzo; Kejal Kantarci; Daniel Kaufer; Walter Kukull; Virginia M Y Lee; James B Leverenz; Simon Lewis; Carol Lippa; Angela Lunde; Mario Masellis; Eliezer Masliah; Pamela McLean; Brit Mollenhauer; Thomas J Montine; Emilio Moreno; Etsuro Mori; Melissa Murray; John T O'Brien; Sotoshi Orimo; Ronald B Postuma; Shankar Ramaswamy; Owen A Ross; David P Salmon; Andrew Singleton; Angela Taylor; Alan Thomas; Pietro Tiraboschi; Jon B Toledo; John Q Trojanowski; Debby Tsuang; Zuzana Walker; Masahito Yamada; Kenji Kosaka Journal: Neurology Date: 2017-06-07 Impact factor: 9.910