Atypical Case of VV1 Creutzfeldt–Jakob Disease Subtype: Case Report

Abstract

Creutzfeldt–Jakob disease (CJD) is a rare form of rapidly progressive, neurodegenerative disease that results from the misfolding and accumulation of an aberrant, disease-associated prion protein (PrPD). CJD affects 1–1.5 cases per million per year with the sporadic-type accounting for an estimated 85% of these cases. Sporadic CJD (sCJD) is further subdivided into five subtypes based on genetic polymorphisms; the rarest subtype, sCJDVV1, occurs at a rate of 1 case per one-hundredth million population per year. Clinical characteristics of the sCJDVV1 subtype have been reported to show, early age of onset (44 years), average disease duration of 21 months, absent PSWCs on electroencephalography (EEG), and MRI hyperintensities in the cerebral cortex with usual negative signal in the basal ganglia or thalamus. We present a case of the sCJDVV1 subtype with uncommon features. Contrary to current data on sCJDVV1, our patient presented with an unusual age at onset (61 years) and longer disease duration (32 months). The highly sensitive and specific real-time quaking-induced conversion (RT-QuIC) assay was negative. Presenting clinical symptoms included paranoid thoughts and agitation, rapidly progressive memory decline, prosopagnosia, and late development of myoclonus and mutism. Other findings showed positive antithyroid peroxidase antibodies (anti-TPO), and absent PSWCs on EEG. High-dose steroid therapy treatment was administered based on positive anti-TPO findings, which failed to elicit any improvement and the patient continued to decline. To our knowledge, only four cases with the sCJDVV1 subtype, including our patient, have been reported to have a negative result on RT-QuIC. This may suggest varied sensitivity across sCJD subtypes. However, given the rarity of our patient's subtype, and the relatively novel RT-QuIC, current data are based on a small number of cases and larger cohorts of confirmed VV1 cases with RT-QuIC testing need to be reported.

Case report: Two clusters of Creutzfeldt–Jakob disease cases within 1 year in West Michigan

“…Different subtypes have different clinical and neuropathological features, as well as survival times and test results ( 8 , 40 , 41 ). The sensitivity of RT-QuIC for detecting MM1 and VV2 is high (96.3%) but can be negative for MM2 and VV1 subtypes ( 33 , 42 ). Younes et al reported that MM1, MV1, and VV2 are related to short duration/fast progression, while MV2, VV1, and MM2 are associated with long duration/slow progression ( 43 ).…”

Prosopagnosia: face blindness and its association with neurological disorders

“… 57 , 58 The other syndromic neurodegenerative diagnoses encountered in our study have less commonly, or have not been previously, reported to correlate with prosopagnosia including Alzheimer’s disease dementia, 30 , 59 , 60 dementia with Lewy bodies, 61 corticobasal syndrome, behavioural-variant frontotemporal dementia, 62 logopenic progressive aphasia and Creutzfeldt–Jakob disease. 63 This may be because these neurodegenerative diseases tend to target the left hemisphere, frontal lobes or dorsal stream of the occipito-parietal cortex. Hence, the ventral right occipito-temporal cortex is typically spared in these degenerative diseases.…”

Improved Real-Time Quaking Induced Conversion for Early Diagnostics of Creutzfeldt–Jakob Disease in Denmark

“…Furthermore, the largest to-date retrospective population study of definitive sCJD cases demonstrated that IQ detected 80% of cases not detectable by PQ [ 8 ]. The study also evaluated IQ sensitivity for different sCJD subtypes and found it to be more sensitive for detection of rare disease subtypes, including VV1 (Parchi’s classification [ 9 ]), which have otherwise been reported as difficult to detect [ 10 ].…”