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Characteristics of Creutzfeldt-Jakob disease at Siriraj Hospital, Thailand: Case series and literature review.
Clin Park Relat Disord
November 2024
Department of Neurology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Introduction: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal, neurodegenerative disease classified as prion diseases. There are many subtypes of this disease, but information about clinical presentation and investigation findings in Thailand is scarce.
Objective: To describe the clinical presentation, radiological and electroencephalographic characteristics of CJD encountered at Siriraj hospital in the past 10 years (between January 1, 2006 and December 31, 2015).
Creutzfeldt-Jakob disease: A case report.
Radiol Case Rep
February 2025
Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Creutzfeldt-Jakob Disease (CJD) is a rare, fatal neurodegenerative disorder that is caused by prion proteins. Patients often present with rapidly progressive dementia, ataxia, myoclonus, memory impairment, visual problems, and changes in personality. In this case report, we aimed to address the course of a 62 year old female who presented with progressive decline in cognitive function and died within 6 months of presentation.
View Article and Find Full Text PDFDrug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family.
Seizure
January 2025
Department of Neurology, AIIMS, New Delhi.
Article Synopsis
- Neuronal Ceroid Lipofuscinosis (NCL) are lysosomal storage disorders leading to neurodegeneration, with adult-onset Kufs disease having distinct characteristics like later onset and preserved vision.
- The authors describe three siblings diagnosed with a novel pathogenic CLN5 subtype, showing symptoms like developmental regression and drug-resistant myoclonic epilepsy, typical of Kufs A.
- This case highlights the increasing recognition of genotypic-phenotypic variations in NCL, as these siblings had an unusual presentation of Kufs A with severe epilepsy.
Sporadic Creutzfeldt-Jakob Disease: A Rare Case of Rapid Progressive Cognitive Decline with Special Reference to Magnetic Resonance Spectroscopy.
J Assoc Physicians India
November 2024
Associate Professor, Department of General Medicine, Medical College Baroda, Vadodara, Gujarat, India.
Article Synopsis
- - Creutzfeldt-Jakob disease (CJD) is a rare and fatal brain disorder that typically affects people in their 60s and manifests as rapid cognitive decline due to the accumulation of abnormal prion proteins, leading to death within a year of diagnosis.
- - Diagnosis of CJD is complicated by overlapping symptoms with other degenerative and infectious diseases, requiring a comprehensive approach that includes clinical evaluations and advanced imaging techniques.
- - A case study of a 60-year-old man with probable sporadic CJD highlights symptoms such as dementia and rigidity, as well as MRI findings that indicate severe neurodegeneration, demonstrating the need for early identification for palliative care, since there is no effective treatment.
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