Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: A Tale of Two Diseases with the Same Genetic Mutation

The purpose of this series is to briefly highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually less than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions given the high number of these conditions. This 26th article will explore three of these rare conditions.

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Sporadic Creutzfeldt-Jakob Disease in a Very Young Person

Neurology ◽

10.1212/wnl.0000000000012737 ◽

2021 ◽

pp. 10.1212/WNL.0000000000012737

Author(s):

Brian Stephen Appleby ◽

Ryan Maddox ◽

Lawrence B. Schonberger ◽

ignazio cali ◽

Teresa Hammett ◽

...

Keyword(s):

Risk Factors ◽

Prion Disease ◽

Psychiatric Symptoms ◽

Disease Risk ◽

Brain Magnetic Resonance Imaging ◽

Final Diagnosis ◽

Genetic Mutation ◽

Post Mortem ◽

Post Mortem Examination ◽

Jakob Disease

Objectives:Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease and typically occurs in mid-to-late life. sCJD in early adulthood is extremely uncommon. The purpose of this report is to raise awareness of young cases of sCJD that are not associated with a genetic mutation or acquired prion disease risk factors.Methods:We describe the clinical presentation, diagnostic work-up, and post-mortem examination of a 22-year-old man with sCJD.Results:The patient presented with a rapidly progressive neurocognitive disorder consisting of early and prominent psychiatric symptoms. Cerebrospinal (CSF) real time quaking induced conversion (RT-QuIC) was indeterminate, and brain magnetic resonance imaging (MRI) was suggestive of prion disease. Neuropathologic examination and the absence of a genetic mutation and acquired prion disease risk factors resulted in a final diagnosis of sCJD.Discussion:Although extremely rare, sCJD can occur in young people and should be considered in the setting of rapidly progressive neuropsychiatric conditions. Post-mortem examination is required to diagnose the type of prion disease and remains important to surveil for known and potentially novel acquired prion diseases.

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Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Clinical, Pathological and Molecular Features

Brain Pathology ◽

10.1111/j.1750-3639.1995.tb00576.x ◽

1995 ◽

Vol 5 (1) ◽

pp. 43-51 ◽

Cited By ~ 128

Author(s):

Pierluigi Gambetti ◽

Piero Parchi ◽

Robert B. Petersen ◽

Shu G. Chen ◽

Elio Lugaresi

Keyword(s):

Fatal Familial Insomnia ◽

Molecular Features ◽

Jakob Disease

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Analyses of the Similarity and Difference of Global Gene Expression Profiles in Cortex Regions of Three Neurodegenerative Diseases: Sporadic Creutzfeldt-Jakob Disease (sCJD), Fatal Familial Insomnia (FFI), and Alzheimer’s Disease (AD)

Molecular Neurobiology ◽

10.1007/s12035-014-8758-x ◽

2014 ◽

Vol 50 (2) ◽

pp. 473-481 ◽

Cited By ~ 15

Author(s):

Chan Tian ◽

Di Liu ◽

Wei Xiang ◽

Hans A. Kretzschmar ◽

Qing-Lan Sun ◽

...

Keyword(s):

Gene Expression ◽

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Neurodegenerative Diseases ◽

Expression Profiles ◽

Gene Expression Profiles ◽

Global Gene Expression ◽

Fatal Familial Insomnia ◽

Jakob Disease ◽

Similarity And Difference

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.91.7.2839 ◽

1994 ◽

Vol 91 (7) ◽

pp. 2839-2842 ◽

Cited By ~ 209

Author(s):

L. Monari ◽

S. G. Chen ◽

P. Brown ◽

P. Parchi ◽

R. B. Petersen ◽

...

Keyword(s):

Dna Polymorphism ◽

Prion Proteins ◽

Fatal Familial Insomnia ◽

Jakob Disease

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Prion Disease

Seminars in Neurology ◽

10.1055/s-0039-1687841 ◽

2019 ◽

Vol 39 (04) ◽

pp. 428-439 ◽

Cited By ~ 3

Author(s):

Kelly J. Baldwin ◽

Cynthia M. Correll

Keyword(s):

Prion Disease ◽

Prion Diseases ◽

Fatal Familial Insomnia ◽

Clinical Presentations ◽

Disease Case ◽

Jakob Disease ◽

Case Discussions

AbstractPrion diseases are a phenotypically diverse set of disorders characterized by protease-resistant abnormally shaped proteins known as prions. There are three main groups of prion diseases, termed sporadic (Creutzfeldt–Jakob disease [CJD], sporadic fatal insomnia, and variably protease-sensitive prionopathy), genetic (genetic CJD, fatal familial insomnia, and Gerstmann–Straussler–Scheinker syndrome), and acquired (kuru, variant CJD, and iatrogenic CJD). This article will review the pathophysiology, genetics, clinical presentations, and diagnostic challenges in patients with prion disease. Case discussions, images, and tables will be used to highlight important characteristics of prion disease and prion mimics.

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