ArticleEuropean journal of neurology2016
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.
Article in European journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own.Orphanet journal of rare diseases · 2025Review
- Review
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- Creutzfeldt-Jakob and Vascular Brain Diseases: Their Overlap and Relationships.Frontiers in neurology · 2021Review
- Intermittent alien hand syndrome caused by Marchiafava-Bignami disease: A case report.Medicine · 2019Article
- The insomnia phenotype in genetic Creutzfeldt-Jakob disease based on the E200K mutation.Prion · 2019Article
- Alien Hand Syndrome.Current neurology and neuroscience reports · 2016Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
background and proposeFamilial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances; however, some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this paper is to describe uncommon presentations in our series of consecutive patients with E200K fCJD.
methodsThe study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical magnetic resonance imaging, electroencephalographic findings, elevated cerebrospinal fluid tau protein levels and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files.
resultsThe study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ± 7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However, six patients had an unusual presentation including auditory agnosia, monoparesis, stroke-like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome.
conclusionsOur case series illustrates the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.
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