Article
Emergency Medicine
Parnia Salehi, Mark Clark, Jeffer Pinzon, Abhijit Patil
Summary: Creutzfeldt-Jakob disease is a fatal neurological condition characterized by unknown etiology, rapid neurodegenerative symptoms, and non-specific clinical presentation. It is difficult to diagnose, but combining clinical findings with neuroimaging, lumbar puncture, and encephalogram can help in making the correct diagnosis.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2022)
Article
Clinical Neurology
Ines Antunes Cunha, Ines Gomes, Helena Gens, Susana Guimaraes, Ana Ines Martins, Conceicao Bento
Summary: This case report highlights a rare presentation of CJD as epilepsia partialis continua, with neuro-ophthalmological examination aiding in early detection of cerebellar involvement.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Tomaz Rus, Jernej Mlakar, Luka Lezaic, An Vo, Nha Nguyen, Chris Tang, Michele Fiorini, Elena Prieto, Gloria Marti-Andres, Javier Arbizu, David Eidelberg, Maja Trost
Summary: This study investigated the metabolic brain network associated with sporadic Creutzfeldt-Jakob disease (sCJD) using FDG-PET brain scans. The CJDRP pattern was characterized by specific metabolic changes in different brain regions and could effectively distinguish sCJD from normal controls and other dementia patients. The pattern's expression correlated with cognitive decline, functional decline, and disease duration. The study also revealed inefficient information transfer and network reorganization in sCJD.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Yu Kong, Zhongyun Chen, Xuedan Feng, Ya Zuo, Jing Zhang
Summary: This study evaluated the changes in gut microbiota and metabolites in patients with sporadic Creutzfeldt-Jakob disease (sCJD) and found significant differences compared to healthy controls. Certain bacteria taxa were increased in sCJD patients, while metabolites related to phenylpropanoid biosynthesis showed a prominent decrease. Additionally, metabolites involved in linoleic acid metabolism and steroid hormone biosynthesis were associated with disease severity. These findings provide new insights into the relationship between gut microbiota, metabolites, and sCJD, and suggest potential biomarkers for disease evaluation.
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Blair Ney, Dhamidhu Eratne, Victoria Lewis, Luke Ney, Qiao-Xin Li, Christiane Stehmann, Steven Collins, Dennis Velakoulis
Summary: The study analyzed 110 post-mortem confirmed cases of sCJD collected between 1993 and 2018 and classified them according to the London classification system. It found that sCJD cases with 'type 1 ' and 'type 2 ' PrPSc as defined by the London classification system differ in their disease duration, with no other significant differences in clinical phenotype or biological characteristics. These findings emphasize the importance of sample size and replicability in analyzing this rare disease process. Recognizing these glycotypes as phenotypically distinct may represent 'best practice' in the collection and processing of sCJD samples within international registries for research purposes.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Multidisciplinary Sciences
Maxime Belondrade, Simon Nicot, Charly Mayran, Lilian Bruyere-Ostells, Florian Almela, Michele A. Di Bari, Etienne Levavasseur, Joel C. Watts, Chantal Fournier-Wirth, Sylvain Lehmann, Stephane Haik, Romolo Nonno, Daisy Bougard
Summary: This study evaluated the amplification of PrPTSE from human sCJD brain samples in different substrates using PMCA, revealing the potential of bank vole PrP substrate in amplifying all sCJD subtypes. In contrast, PMCA in human PrP substrates led to molecular shifts in PrPTSE, with increased permissiveness of V129 PrP substrate to sCJD prion amplification. The combination of PMCA sensitivities and PrPTSE electrophoretic profiles confirmed the classification of 4 distinct major sCJD prion strains. Additionally, the sensitivity required to detect VV2 sCJD prions in cerebrospinal fluid was achieved.
SCIENTIFIC REPORTS
(2021)
Review
Clinical Neurology
Johnny Tam, John Centola, Hatice Kurudzhu, Neil Watson, Janet MacKenzie, Margaret Leitch, Terri Hughes, Alison Green, David Summers, Marcelo Barria, Colin Smith, Suvankar Pal
Summary: This study characterized the clinical features of young individuals with sporadic Creutzfeldt-Jakob disease (sCJD) using data from UK national CJD surveillance. The findings showed that young-onset sCJD is more likely to present with neuropsychiatric symptoms and headache, longer disease duration, and lower sensitivity of RT-QuIC. These results provide guidance for evaluating younger individuals with rapidly progressive cognitive and neuropsychiatric decline and emphasize the importance of additional vigilance for atypical features.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Izaro Kortazar-Zubizarreta, Rebeca Ruiz-Onandi, Arrate Pereda, Yerai Vado, Gonzalo Gonzalez-Chinchon, Hasier Erana, Guiomar Perez de Nanclares, Joaquin Castilla
Summary: This rare case of sporadic Creutzfeldt-Jakob disease in a 61-year-old woman had an unusually long survival period of 14 years, highlighting the importance of histopathological confirmation with brain autopsies for suspected cases.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Zhongyun Chen, Min Chu, Jing Zhang, Yu Kong, Kexin Xie, Yue Cui, Hong Ye, Li Liu, Junjie Li, Lin Wang, Liyong Wu
Summary: This study aimed to explore the clinical characteristics of sporadic fatal insomnia (sFI), assess its similarities and differences with fatal familial insomnia (FFI), and evaluate the influence of ethnicity on the phenotype of sFI patients. The results showed that sFI had a longer disease duration and a higher proportion of neuropsychiatric symptoms compared to FFI. Differences were also observed in MRI and EEG findings between sFI and FFI patients, especially in those with pathological changes associated with sporadic Creutzfeldt-Jakob disease. Moreover, there were variations in clinical characteristics based on ethnicity in sFI patients.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Samir Abu-Rumeileh, Peggy Barschke, Patrick Oeckl, Simone Baiardi, Angela Mammana, Andrea Mastrangelo, Mhd Rami Al Shweiki, Petra Steinacker, Anna Ladogana, Sabina Capellari, Markus Otto, Piero Parchi
Summary: This study investigated the levels of PDYN and PENK-derived peptides in the cerebrospinal fluid (CSF) of patients with sporadic Creutzfeldt-Jakob disease (sCJD). The results showed that these peptides were associated with CSF biomarkers of neurodegeneration, but did not have significant diagnostic or prognostic value in sCJD. However, the distinct marker levels between molecular subtypes might help to better understand the basis of phenotypic heterogeneity determined by divergent neuronal targeting.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Samir Abu-Rumeileh, Steffen Halbgebauer, Giuseppe Mario Bentivenga, Lorenzo Barba, Simone Baiardi, Andrea Mastrangelo, Patrick Oeckl, Petra Steinacker, Angela Mammana, Sabina Capellari, Markus Otto, Piero Parchi
Summary: Beta-synuclein is a promising biomarker for synaptic damage in cerebrospinal fluid and blood, and it can accurately distinguish sporadic Creutzfeldt-Jakob disease from non-prion rapidly progressive dementias. It outperforms protein 14-3-3 and total tau in cerebrospinal fluid, and has similar diagnostic value as cerebrospinal fluid biomarkers in plasma. Beta-synuclein may serve as the first highly accurate blood biomarker for the diagnosis of sporadic Creutzfeldt-Jakob disease.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Virology
Ellen Gelpi, Sigrid Klotz, Nuria Vidal-Robau, Gerda Ricken, Gunther Regelsberger, Thomas Strobel, Ognian Kalev, Marlene Leoni, Herbert Budka, Gabor G. Kovacs
Summary: The study found that in sporadic Creutzfeldt-Jakob disease, the MM2C subtype is more likely to accumulate PrPd in white matter oligodendrocytes, and this pathology is more prominent in patients with a longer disease duration.
Article
Clinical Neurology
Hikari Nunomura, Taketoshi Kasahara, Taku Hatano, Hitoshi Shimada, Yuhei Takado, Hironobu Endo, Ayako Inoshita, Atsuko Inomata, Toshihisa Murofushi, Shihoko Misawa, Yutaka Machida, Hisamasa Imai
Summary: We present a case of a 63-year-old female patient with progressive supranuclear palsy (PSP) who exhibited predominant postural instability and saccadic ping-pong gaze (SPPG). The patient experienced recurring unprovoked falls within a year from the onset of gait disturbance. Examination revealed no signs of other movement disorders and a negative dopaminergic response. SPPG, characterized by short-cycle, horizontal irregular oscillations of eye position with superimposed small saccades, was observed in dark conditions and with eye closure.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Inga Zerr, Anna Villar-Pique, Peter Hermann, Matthias Schmitz, Daniela Varges, Isidre Ferrer, Joachim Riggert, Henrik Zetterberg, Kaj Blennow, Franc Llorens
Summary: This study aimed to determine the accuracy of plasma Nfl and t-tau in the differential diagnosis of neurodegenerative dementias and their potential value as prognostic markers. Results showed that Nfl and t-tau could differentiate different neurological conditions, with t-tau being associated with disease duration.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Review
Clinical Neurology
Qingqing Sun, Pingping Shen, Jiayi Tang, Hongmei Meng, Jiachun Feng, Zan Wang, Li Cui
Summary: Creutzfeldt-Jakob disease (CJD) subtypes are challenging to identify due to clinical heterogeneity, with accurate early recognition aiding prognosis prediction. Diagnosis of sCJD subtypes currently relies on brain tissue biopsy or autopsy. This report presents a case of sCJD initially presenting as insomnia, emphasizing sporadic fatal insomnia as a differential diagnosis of sCJD.
NATURE AND SCIENCE OF SLEEP
(2021)