Subacute progressive aphasia: a rare presentation of Creutzfeldt–Jakob disease

Riancho, Javier; Delgado-Alvarado, Manuel; Fernández‐Torre, José L.; Sánchez‐Juan, Pascual; Polo, J. M.

doi:10.1007/s00415-016-8054-y

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…In cases with aphasic presentation, diagnostic investigations did not show any specific findings in addition to those typically observed in CJD. In three cases only, brain MRI revealed focal or prominent abnormality in the temporal and frontal regions of the left hemisphere [124,128,129], but the findings were not confirmed in larger cohorts. Aphasic onset has been found mainly associated with the most common MM(V)1 subtype [119], but also with MM2C [119,126] and MV2K subtypes [123,127] (Table 4).…”

Section: Aphasiamentioning

confidence: 62%

“…Although aphasia is frequently observed in CJD patients during the disease course [6,117,118], its prevalence as an isolated presenting symptom is only about 1% [119,120]. In most reports, the commonest aphasic features included difficulty in naming and reduced verbal fluency, followed by paraphasic errors, difficulty in remembering words and agrammatism, whereas speech comprehension appeared less affected [69,119,[121][122][123][124][125][126][127][128][129]. Due to the rarity of this presentation and the lack of consistent neuropsychologic data, a CJD-specific "aphasic profile" at onset cannot be drawn.…”

Section: Aphasiamentioning

confidence: 99%

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Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Baiardi

Capellari

Stella

et al. 2018

JAD

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The introduction of prion RT-QuIC, an ultrasensitive specific assay for the in vivo detection of the abnormal prion protein, has significantly increased the potential for an early and accurate clinical diagnosis of Creutzfeldt-Jakob disease (CJD). However, in the clinical setting, the early identification of patients with possible CJD is often challenging. Indeed, CJD patients may present with isolated symptoms that remain the only clinical manifestation for some time, or with neurological syndromes atypical for CJD. To enhance awareness of unusual disease presentations and promote earlier diagnosis, we reviewed the entire spectrum of atypical early manifestations of CJD, mainly reported to date as case descriptions or small case series. They included sensory either visual or auditory disturbances, seizures, isolated psychiatric manifestations, atypical parkinsonian syndromes (corticobasal syndrome, progressive supranuclear palsy-like), pseudobulbar syndrome, isolated involuntary movements (dystonia, myoclonus, chorea, blepharospasm), acute or subacute onsets mimicking a stroke, isolated aphasia, and neuropathy. Since CJD is a rare disease and its clinical course rapidly progressive, an in-depth understanding and awareness of early clinical features are mandatory to enhance the overall diagnostic accuracy in its very early stages and to recruit optimal candidates for future therapeutic trials.

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Section: Aphasiamentioning

confidence: 62%

Section: Aphasiamentioning

confidence: 99%

Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Baiardi

Capellari

Stella

et al. 2018

JAD

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“…AD was diagnosed in 40% of the remaining autopsies (14). CJD may present with focal cortical symptoms like aphasia, which is included in the 2007 UCSF criteria for probable CJD (15–17). …”

Section: Discussionmentioning

confidence: 99%

Creutzfeldt–Jakob Disease: Analysis of Four Cases

et al. 2016

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BackgroundCreutzfeldt–Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over a 2-year period.CasesThe first patient is an 82-year-old woman who presented with depression, cognitive decline, and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia, and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy but continued to progress to mutism, startle myoclonus, and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia, and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia, and personality change and progressed to confusion, myoclonus, akinetic mutism, and obtundation. Death occurred within 3 weeks from presentation.ConclusionThese four cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities, all support the diagnosis.

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