Sporadic Creutzfeldt-Jakob Disease: Finding the Needle in the Haystack
Sporadic Creutzfeldt-Jakob disease (SCJD) is a rare neurodegenerative disease with a very low prevalence. The aetiology is theorised to be genetic. Modern laboratory techniques, such as the real-time quaking-induced conversion (RT-QuIC) assay, have allowed us to diagnose CJD with greater sensitivity...
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| Published in: | Curēus (Palo Alto, CA) Vol. 16; no. 7; p. e64548 |
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| Main Authors: | , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Springer Nature B.V
15.07.2024
Cureus |
| Subjects: | |
| ISSN: | 2168-8184, 2168-8184 |
| Online Access: | Get full text |
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| Summary: | Sporadic Creutzfeldt-Jakob disease (SCJD) is a rare neurodegenerative disease with a very low prevalence. The aetiology is theorised to be genetic. Modern laboratory techniques, such as the real-time quaking-induced conversion (RT-QuIC) assay, have allowed us to diagnose CJD with greater sensitivity and specificity. Previously, the diagnosis rested primarily on a post-mortem brain biopsy. Although advancements in laboratory techniques have allowed earlier diagnosis of CJD, the treatment is still supportive. Research is still ongoing for a curative treatment, but so far, the fatality rate remains at 100%. Early vague symptoms of CJD delay the diagnosis further, as multiple pathologies need to be ruled out before consideration of the diagnosis of CJD. This case report describes a similar case of sporadic CJD diagnosed in an otherwise fit and well patient. |
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| Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
| ISSN: | 2168-8184 2168-8184 |
| DOI: | 10.7759/cureus.64548 |