Sporadic Jakob-Creutzfeldt Disease Presenting as Primary Progressive Aphasia

Johnson, David Y.; Dunkelberger, Diana L.; Henry, Maya L.; Haman, Aissa; Greicius, Michael D.; Wong, Katherine; DeArmond, Stephen J.; Miller, Bruce L.; Gorno‐Tempini, Maria Luisa; Geschwind, Michael D.

doi:10.1001/2013.jamaneurol.139

Cited by 23 publications

(9 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In sCJD of the MV2 subtype, as was our patient, kuru plaques in the cerebellum are also frequent [ 4 ], but the pattern of plaques in our case was clearly different. Our patient also had a prolonged course of almost five years, which is atypical for CJD of sporadic and iatrogenic cause, but there is a case report of a 56-year-old man who had a 42-month course of CJD, also with an MV2 subtype and presenting as primary progressive aphasia [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Her pathology did not have a “classic” iCJD phenotype, but it was also not typical for sCJD, given the multicentric plaques in the cerebellum. The long symptomatic period may have allowed more severe pathology to develop [ 13 ], but the plaque pattern seen in our patient was not described in the long duration MV2 case with primary progressive aphasia [ 12 ]. Finally, whether the inflammation from PACNS predisposed that area of the brain to prion propagation is another interesting speculation.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Creutzfeldt–Jakob Disease with a Five-Year Clinical Course, Multicentric Cerebellar Prion Plaques and Prior History of Biopsy-Proven Primary Angiitis of the Central Nervous System: A Case for Iatrogenic Exposure?

Jeon

Joseph

Jansen

et al. 2020

Viruses

View full text Add to dashboard Cite

Creutzfeldt–Jakob disease (CJD) is a rapidly progressive neurodegenerative disease that can arise spontaneously, genetically, or be acquired through iatrogenic exposure. Most patients die within a year of symptom onset. It is rare, affecting 1–2 per million per year, and the majority of cases are sporadic. Primary angiitis of the central nervous system (PACNS) is also rare, affecting 2.4 per million per year. We present a case of an unusually long clinical course of CJD, almost five years, which began with symptoms of apraxia. The patient had biopsy-proven PACNS 16 years prior to clinical presentation, and the site of biopsy was the left parietal lobe. Autopsy revealed multicentric prion plaques in the cerebellum, in the setting of normal genetic testing. The presence of plaques in the cerebellum, and prior neurosurgery, raises the possibility of iatrogenic exposure. We present the details of this case, including pathology from the original biopsy and final autopsy, as well as a review of relevant cases in the literature.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Creutzfeldt–Jakob Disease with a Five-Year Clinical Course, Multicentric Cerebellar Prion Plaques and Prior History of Biopsy-Proven Primary Angiitis of the Central Nervous System: A Case for Iatrogenic Exposure?

Jeon

Joseph

Jansen

et al. 2020

Viruses

View full text Add to dashboard Cite

show abstract

“…The only alternative diagnosis to consider is Creutzfeldt–Jakob disease, which can cause a focal progressive aphasia that may evolve over a period of 3 or 4 years but almost never over a period of 8 years. 1,2 …”

Section: Clinical Differential Diagnosismentioning

confidence: 99%

Case 1-2017

et al. 2017

View full text Add to dashboard Cite

“…Mesulam Ce patient porte é galement une mutation de la progranuline, ce qui pose la question d'une potentielle interaction des diffé rentes proté ines à l'origine des lé sions observé es chez lui [97]. Enfin, 3 cas de neuropathologie de maladie de CreutzfeldtJakob sont rapporté es chez des patients ayant pré senté un syndrome logopé nique typique é voluant de maniè re isolé e durant une longue pé riode, respectivement 18 mois, 3,5 ans et 2 ans [99,102,103]. …”

Section: Particularite´s Neuropathologiquesunclassified