ABSTRACT
La enfermedad de Creutzfeldt-Jakob (ECJ) es una rara enfermedad neurodegenerativa con una alta incidencia en Chile respecto del resto del mundo. El cuadro se caracteriza principalmente por desarrollo de demencia rápidamente progresiva y diversos signos neurológicos inespecíficos, siendo el más frecuente la mioclonía. El caso que se describirá a continuación destaca por las manifestaciones iniciales atípicas que presentó el paciente, tales como compromiso sensitivo en región cráneo-cérvico-dorsal y polineuropatía periférica de extremidades inferiores (EEII), lo que significó un retraso en el diagnóstico clínico de la ECJ. Es importante conocer los diferentes síntomas y signos que pueden presentarse en el cuadro clínico de ECJ, tanto típicos como aquellos menos frecuentes, para así poder dar con el diagnóstico de la enfermedad en etapas más tempranas. De igual manera, es fundamental contar con herramientas diagnósticas como la detección de proteína 14-3-3 o proteína Tau en los centros de salud de nuestro país. Esto permitiría al equipo de salud, brindar un manejo de soporte adecuado y oportuno a estos pacientes.
Creutzfeldt-Jakob disease is a rare neurodegenerative disease with a high incidence in Chile compared to the rest of the world. The condition is mainly characterized by the development of rapidly progressive dementia and various nonspecific neurological signs, the most common being myoclonus. The case that will be described below stands out for the atypical initial manifestations that the patient presented, such as sensory compromise in the cranio-cervico-dorsal region and peripheral polyneuropathy of the lower extremities, which meant a delay in the clinical diagnosis of the disease. It is important to know the different symptoms and signs that can be present in the clinical picture of CJD, both typical and those less frequent, in order to be able to diagnose the disease in earlier stages. Similarly, it is essential to have diagnostic tools such as the detection of 14-3-3 protein or Tau protein in health centers in our country. This would allow the health team to provide adequate and timely support management to these patients.
ABSTRACT
Sporadic Creutzfeldt-Jakob disease is a rare condition with a rapid disease course and a mortality rate of 100%. In clinical practice, it is difficult to diagnose, even if consistent conventional laboratory methodologies are used. This article will give a summary on the epidemiology, pathogenesis, clinical manifestations, auxiliary examination, diagnosis and differential diagnosis, management, and prognosis of sporadic Creutzfeldt-Jakob disease.
ABSTRACT
Objective:To analyze the clinical features and auxiliary examination results of sporadic Creutzfeldt-Jakob disease (sCJD) with restless leg syndrome (RLS) as the first symptom.Methods:The clinical features and auxiliary examination results of one case of sCJD who received treatment in Sichuan Mianyang 404 Hospital were analyzed based on relevant literature.Results:A 59-year-old woman of Han nationality who had sCJD with restless leg-like manifestation of the left lower limb for 18 days was included in this study. The patient was first treated in orthopedic department, but her symptom did not improve after treatment. Twenty days later, she was transferred to neurology department for further treatment. Her daily life and activities were not affected. Head magnetic resonance imaging, electroencephalography, cerebrospinal fluid routine examination and biochemical test results were normal. Five days later, the patient had mild left-sided ataxia, which then progressed rapidly, followed by right-sided ataxia, left-leg spasticity and adduction, involuntary movement, myoclonia, cognitive decline, akinetic mutism, repeated hyperthermia, repeated complex partial seizures. Two weeks later, head magnetic resonance imaging examination revealed hyperintense signal of the cingulate gyrus, frontal cortex and right island cortex on DWI, with cerebellar atrophy and three-phase electroencephalography wave. Four weeks later, CSF14-3-3 protein was positive, and no related genetic mutation in the prion protein gene was found. The duration from onset to death was about 8 months.Conclusion:sCJD is a common subtype of prion protein disease, and the condition can be stabilized for more than 1 month after the onset of RLS. There is no specificity in early clinical and auxiliary examinations, and neither dobutazine treatment nor neurotrophic treatment is effective. The disease progresses rapidly after 1 month, head MRI and EEG reexamination can reveal clues, and CSF14-3-3 protein can assist clinical diagnosis.
ABSTRACT
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50-59 year group. Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier than genetic Creutzfeldt-Jakob disease (gCJD) patients with point mutations. A family history was more frequently recalled in P105L GSS and D178N FFI patients than T188K and E200K patients. None of the E196A gCJD patients reported a family history. The gCJD cases with point mutations always developed clinical manifestations typical of sporadic CJD (sCJD). EEG examination was not sensitive for gPrDs. sCJD-associated abnormalities on MRI were found in high proportions of GSS and gCJD patients. CSF 14-3-3 positivity was frequently detected in gCJD patients. Increased CSF tau was found in more than half of FFI and T188K gCJD cases, and an even higher proportion of E196A and E200K gCJD patients. 63.6% of P105L GSS cases showed a positive reaction in cerebrospinal fluid RT-QuIC. GSS and FFI cases had longer durations than most subtypes of gCJD. This is one of the largest studies of gPrDs in East Asians, and the illness profile of Chinese gPrDs is clearly distinct. Extremely high proportions of T188K and E196A occur among Chinese gPrDs; these mutations are rarely reported in Caucasians and Japanese.
Subject(s)
Humans , 14-3-3 Proteins/cerebrospinal fluid , China , Creutzfeldt-Jakob Syndrome/genetics , Mutation/genetics , Prion Diseases/genetics , Prion Proteins/genetics , Prions/genetics , tau Proteins/cerebrospinal fluidABSTRACT
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50–59 year group. Gerstmann–Sträussler–Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier than genetic Creutzfeldt–Jakob disease (gCJD) patients with point mutations. A family history was more frequently recalled in P105L GSS and D178N FFI patients than T188K and E200K patients. None of the E196A gCJD patients reported a family history. The gCJD cases with point mutations always developed clinical manifestations typical of sporadic CJD (sCJD). EEG examination was not sensitive for gPrDs. sCJD-associated abnormalities on MRI were found in high proportions of GSS and gCJD patients. CSF 14-3-3 positivity was frequently detected in gCJD patients. Increased CSF tau was found in more than half of FFI and T188K gCJD cases, and an even higher proportion of E196A and E200K gCJD patients. 63.6% of P105L GSS cases showed a positive reaction in cerebrospinal fluid RT-QuIC. GSS and FFI cases had longer durations than most subtypes of gCJD. This is one of the largest studies of gPrDs in East Asians, and the illness profile of Chinese gPrDs is clearly distinct. Extremely high proportions of T188K and E196A occur among Chinese gPrDs; these mutations are rarely reported in Caucasians and Japanese.
ABSTRACT
Resumen La enfermedad de Creutzfeldt-Jakob (ECJ) es una entidad neurodegenerativa, neuroselectiva y fatal con casi nulo reporte en México. Se presenta el caso de un paciente del sexo masculino de 40 años que inició de padecimiento con alteraciones de la memoria a corto plazo, episodios depresivos y labilidad emocional con tendencia a la irritabilidad, posteriormente se agregó desorientación espacial y disminución de fuerza del hemicuerpo izquierdo, lateropulsión en la marcha ipsilateral e insomnio, por lo cual fue ingresado al hospital por 40 días para abordaje diagnóstico. Durante su estancia hospitalaria se le realizaron diversos estudios siendo los más relevantes para el diagnóstico: resonancia magnética, la cual presentó "cintas corticales" e hiperintensidades en los núcleos de la base, ambos hallazgos altamente sugerentes de la patología, así como proteína 14-3-3 positiva, lo cual reafirmó el diagnóstico. Tras 15 meses del inicio de los síntomas neurológicos presentó un cuadro de neumonía adquirida en la comunidad, por lo cual fue admitido al hospital donde se diagnosticó absceso pulmonar y demencia rápidamente progresiva, finalmente el paciente falleció en el nosocomio por una sepsis de origen pulmonar, 18 meses después del inicio de los síntomas, no se realizó necropsia, esto de acuerdo con los estándares actuales del manejo de la enfermedad.
Abstract The Creutzfeldt-Jakob disease is a neurodegenerative, neuroselective and fatal entity, that is not usually reported in Mexico. We present a 40-year-old male patient who presents the onset of this illness, with short-term memory disorder, depressive episodes and emotional lability with a tendency to irritability. He also presents space disorientation, decreased strength of the left and lateral hemibody drive in the ipsilateral walk, and insomnia, for which he is admitted to the hospital during 40 days for diagnostic approach. Several studies were carried out during his hospital stay, the most relevant for the diagnosis: a magnetic resonance which presented "cortical ribboning" and hyperintensities in the nuclei of the base, both diagnosis highly suggested the pathology. The positive results to protein 14-3-3 reaffirmed the diagnosis. After 15 months of the onset of neurological symptoms, the patient presented symptoms of pneumonia, which lead to the hospitalization. During his stay, he presented a pulmonary abscess and rapid progressive dementia. The patient died in the hospital by a pulmonary sepsis 18 months after the onset of symptoms. No necropsy was performed, following the current standards for the disease management.
ABSTRACT
Creutzfeldt and Jakob's disease (CJD) has its initial milestone in the publication issued 100 years ago that precipitated its better clinical-pathological and etiological understanding. Now, it is established that it belongs to the group of the prion diseases or transmissible spongiform encephalopathies family. CJD is itself divided into several types, the most common being sporadic that is further subdivided according to the anatomoclinical expression, but mainly due to its aetiology regarding prionic protein or genotype.
A doença de Creutzfeldt e Jakob (CJD) tem seu marco inicial na publicação emitida há 100 anos que precipitou seu melhor entendimento clínico- patológico e etiológico. Agora, está estabelecido que pertence ao grupo da família das doenças de príons ou encefalopatias espongiformes transmissíveis. A própria CJD se divide em vários tipos, sendo o mais comum o esporádico que também se subdivide de acordo com a expressão anatomoclínica, mas principalmente devido à sua etiologia em relação à proteína priônica ou genótipo.
Subject(s)
Humans , History, 20th Century , Creutzfeldt-Jakob Syndrome/history , Prion Diseases/diagnosis , Creutzfeldt-Jakob Syndrome/genetics , Disease Progression , Prion ProteinsABSTRACT
Resumen: La enfermedad de Creutzfeldt-Jakob es una afección neuroselectiva y neurodegenerativa, de curso fatal, poco frecuente, que representa un desafío para el diagnóstico clínico. Se comunica el caso de un paciente de 52 años de edad con antecedente de ingesta de mamíferos silvestres durante su vida, con cuadro de disminución de la agudeza visual, demencia rápidamente progresiva, mioclonías, movimientos anormales y disfunción motora; con estudios auxiliares de diagnóstico diferencial dentro de parámetros normales y la determinación de la proteína TAU reactiva.
Abstract: Creutzfeldt-Jakob disease is a neuroselective and neurodegenerative illness, with fatal course, which is rare and represents a challenge for clinical diagnosis. This paper reports the case of a 52-year-old male with a history of ingestion of wild mam- mals during his life, with a picture of diminished visual acuity, rapidly progressive dementia, myoclonus, abnormal movements and motor dysfunction; with auxiliary studies of differential diagnosis within normal parameters and the determination of reactive TAU protein.
ABSTRACT
Creutzfeldt-Jakob Disease (CJD) is a rare invariably fatal neurodegenerative disease believed to be caused by an abnormal isoform of cellular infectious glycoprotein called prion protein. Though it is arare disease; yet it is the most common among prion diseases. Clinical presentation consists of rapidly progressive loss of memory, cognitive & visual disturbance, lack of coordination, myoclonus, cerebellar, pyramidal and extra pyramidal signs, akineticmutism & with progression of disease deterioration in higher mental functions become more pronounced. Periodic sharp triphasic wave complexes on EEG, high signal abnormalities in caudate nucleus and putamen on diffusion weighted (DW) or FLAIR MRI of Brain and positive 14-3-3 protein in CSF substantiate the diagnosis of CJD but definitive diagnosis is established by brain biopsy or autopsy materials. We report a case of 58-year old female patient who was admitted with complaints of rapidly progressive dementia, cognitive disturbance, blurring of vision and myoclonic jerks. Initial MRI brain and CSF findings were normal. Differential diagnoses that can present with rapidly progressive dementia and thereby mimic sporadic Creutzfeldt-Jakob disease were considered after review of literature. In EEG triphasic wave complexes were seen, repeat DWMRI after two weeks showed bilateral hyper-intensities in basal ganglia involving caudate nucleus and putamen, suggesting a diagnosis of probable CJD on the basis of center for disease control and prevention (CDC) criteria. The case is reported because of its rarity and also to emphasise that patients with rapidly progressive dementia, associated visual and cognitive disturbances and myoclonus should be investigated with DW MRI, EEG&CSF for diagnosis of CJD.
ABSTRACT
A 68-year-old man presented with a three-week history of rapidly progressive dementia, gait ataxia and myoclonus. Subsequent electroencephalography showed periodic sharp wave complexes, and cerebrospinal fluid assay revealed the presence of a 14-3-3 protein. A probable diagnosis of sporadic Creutzfeldt-Jakob disease was made, which was further supported by magnetic resonance (MR) imaging of the brain showing asymmetric signal abnormality in the cerebral cortices and basal ganglia. The aetiology, clinical features, diagnostic criteria, various MR imaging patterns and radiologic differential diagnosis of sporadic Creutzfeldt-Jakob disease are discussed in this article.
Subject(s)
Aged , Humans , Male , Brain , Pathology , Cerebral Cortex , Cerebrospinal Fluid , Metabolism , Creutzfeldt-Jakob Syndrome , Diagnostic Imaging , Dementia , Diagnosis, Differential , Diffusion Magnetic Resonance Imaging , Electroencephalography , Hypoxia-Ischemia, Brain , Diagnostic Imaging , Prion DiseasesABSTRACT
Objective To analyze the sensitivity of auxiliary examinations in different periods of sporadic Creutzfeldt-Jakob disease (sCJD).Methods The clinical data of 53 sCJD patients were retrospectively analyzed including the different stages of skull diffusion-weighted magnetic resonance imaging (DWI),24-hour ambulatory electroencephalogram (EEG),18F-FDG PET/CT (PET-CT)and cerebrospinal fluid 14-3-3 protein.When calculating the sensitivity of an auxiliary examination,the diagnostic criteria were defined by combining the specific clinical manifestations with two or more positive results of other auxiliary examinations.Results There were 24,53 and 22 sCJD patients,respectively,met the criterion of early (E),middle (M) and later (L) stage of disease (some patients fit 2 or 3 stages).The sensitivity ofDWl (E:58.3％ M:85.4％,L:94.7％),EEG (E:45.8％,M:62.7％,L:77.8％),14-3-3 protein in cerebrospinal fluid (E:11.1％,M:52.9％) and PET-CT (E:80％,M:100％) increased gradually with disease progression,The sensitivity of PET-CT was higher than the other auxiliary examinations for E and M stages;no PET-CT was conducted in L stage.High signal regions mainly distributed in the cortex in E and M stages,but in L stage,no significant difference was found on the distribution of high signal regions between cortex and basal ganglia.Conclusions The sensitivities of the auxiliary examinations were different for sCJD patients in different stages.Reexaminations in different periods may improve the sensitivity for sCJD diagnosis.The sensitivity of PET-CT was high,and the combination of PET-CT and other auxiliary examinations may play a key role in the diagnosis of sCJD.
ABSTRACT
We investigated the epidemiological and clinical characteristics,to provide evidence for the control and prevention of Creutzfeldt-Jakob disease (CJD) in Shaanxi Province,China.Clinical and epidemiological datas on 49 suspicious CJD patients from 7 hospitals in Shaanxi Province from 2011 to 2015 was collected.Blood and cerebral spinal fluid (CSF) specimens from the cases were gathered.For CSF sample,14-3-3 protein were tested by Western blot.For blood sample,PCR and sequencing were used,and then the mutation of PRNP gene and the polymorphism of 129 and 219 amino acids were analyzed.It showed that a total number of 16 probable and 4 possible sporadic CJD patients,and 1 familial CJD case were identified.Among these cases,neither geographic nor occupational-related ones were found.The median age of onset for the probable sporadic CJD cases was 62 years old,and the gender ratio of male to female was 1.29 to 1.The most initial symptom was rapid progressive dementia,which accounted for 47.62％ of the CJD patients.This report indicates that the main type of CJD in Shaanxi Province is sporadic CJD with its distinctive characteristics including geography distribution,occupation,gender ratio and age of onset.
ABSTRACT
ABSTRACT Background: Creutzfeldt-Jakob Disease (CJD) is the prototypical cause of rapidly progressive dementia (RPD). Nonetheless, efforts to exclude reversible causes of RPD that mimic prion disease are imperative. The recent expanding characterization of neurological syndromes associated with antibodies directed against neuronal cell surface or sympathic antigens, namely autoimmune encephalitis is shifting paradigms in neurology. Such antigens are well known proteins and receptors involved in synaptic transmission. Their dysfunction results in neuropsychiatric symptoms, psychosis, seizures, movement disorders and RPD. Faciobrachial dystonic seizure (FBDS) is a novel characterized type of seizure, specific for anti-LGI1 encephalitis. Objective: In order to improve clinical recognition we report the cases of two Brazilian patients who presented with characteristic FDBS (illustrated by videos) and anti-LGI1 encephalitis. Methods: We have included all patients with FBDS and confirmed anti-LGI1 encephalitis and video records of FDBS in two tertiary Brazilian centers: Department of Neurology of Hospital das Clínicas, Sao Paulo University, Sao Paulo, Brazil and Hospital Geral de Fortaleza, Fortaleza, Brazil between January 1, 2011 and December 31, 2015. Results: Both patients presented with clinical features of limbic encephalitis associated with FBDS, hyponatremia and normal CSF. None of them presented with tumor and both showed a good response after immunotherapy. Conclusion: FBDSs may be confounded with myoclonus and occurs simultaneously with rapid cognitive decline. Unawareness of FDBS may induce to misdiagnosing a treatable cause of RPD as CJD.
RESUMO Embasamento: A doença de Creutzfeldt-Jakob (DCJ) é o protótipo de demência rapidamente progressiva (DRP). No entanto, é imperativo que sejam excluídas causas reversíveis de DRPs que possam simular doença priônica. A recente caracterização de síndromes neurológicas associadas a anticorpos direcionados contra antígenos de superfície neuronal ou sinapse, assim denominadas de encefalites autoimunes, está mudando paradigmas em neurologia. Esses antígenos estão envolvidos na transmissão sináptica, sendo que as disfunções destes podem resultar em sintomas neuropsiquiátricos, psicose, crises epilépticas, distúrbios do movimento e DRP. A crise distônica faciobraquial (CDFB) é um tipo de crise recentemente caracterizada e específica da encefalite anti-LGI1. Objetivo: Para promover um melhor reconhecimento da doença relatamos os casos de 2 pacientes brasileiros que apresentaram CDFBs (ilustradas com vídeos) associadas à encefalite anti-LGI1. Métodos: Foram incluídos todos os pacientes com CDFBs e encefalite anti-LGI1 confirmados em 2 centros brasileiros terciários: Departamento de Neurologia do Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brasil e o Hospital Geral de Fortaleza entre 01 de janeiro de 2011 e 31 de dezembro de 2015. Resultados: Ambos os casos apresentaram quadro clinico típico de encefalite límbica associada a CDFBs e exame do LCR sem alterações. Nenhum caso associou-se à presença de neoplasia e ambos apresentaram boa resposta à imunoterapia. Conclusão: A CDFB podem ser confundidas com mioclonias e ocorrer simultaneamente com rápido declínio cognitivo, o seu não reconhecimento pode induzir ao diagnóstico errôneo de uma causa potencialmente tratável de DRP como sendo DCJ.
Subject(s)
Humans , Dementia , EncephalitisABSTRACT
Creutzfeldt–Jakob disease (CJD) is a rare neurodegenerative disorder characterized by rapidly progressing dementia, general neurologic deterioration, and death. When the leading symptoms are visual disturbances, it is termed as the Heidenhain variant of CJD (HvCJD). CJD was reported following prion‑contaminated pericardium transplants but never after bovine bioprosthetic cardiac valve. In this case report, we describe HvCJD in a patient who had a bovine bioprosthetic cardiac valve implant. An 82‑year‑old‑woman was referred to neuro‑ophthalmology clinic for unexplained visual loss that started 1 month previously. Medical history included aortic valve replacement with bovine bioprosthetic valve. On examination, best‑corrected visual acuity was 20/120 in the right eye and 20/200 in the left eye; otherwise, the eye examination was normal. Humphrey visual fields revealed complete right homonymous hemianopsia. Magnetic resonance imaging (MRI) demonstrated nonspecific white matter changes. A week later, she was hospitalized due to memory impairment; repeated MRI and total body computed tomography scan showed no significant findings. Electroencephalography recordings and extremely elevated cerebrospinal fluid tau protein were compatible with CJD. The patient died 3 weeks later; autopsy was not performed. The patient had HvCJD. Ophthalmologists being first to see these patients should be aware of this diagnosis. Contaminated bovine bioprosthetic valve might be another source for prion disease. Further research is required to establish this issue.
ABSTRACT
OBJECTIVES: This study estimated the overall incidence of iatrogenic Creutzfeldt-Jakob disease (iCJD) based on dura graft cases in Korea using a mathematical model. METHODS: We estimated the number of annual dura grafts performed between 1980 and 1995 by applying the proportion of dura grafts recorded by the Health Insurance Review Agency claim dataset in Korea to the number of nationwide neurosurgery cases. The distribution of the incubation period was assumed to fall under a Weibull distribution with density function or a log-logistic distribution with density function. RESULTS: The total number of neurosurgery procedures performed from 1980 to 1995 was estimated to be 263,945, and among those operations, 37% used dura graft products. Between the years of 1980 and 2020, our model predicted that the total number of iCJD cases would be between 14.9 and 33.2 (95% confidence interval [CI], 13.4 to 50.9). Notably, we estimated that the cumulative number of iCJD cases caused by dura grafts between 1980 and 2011 was approximately 13.3 to 27.3 (95% CI, 12.2 to 40.6). CONCLUSIONS: Based on our model, we postulate that the incidence of iCJD will sharply decline from 2012 to 2020. However, additional new cases are still expected, which necessitates a strong national surveillance system.
Subject(s)
Cadaver , Creutzfeldt-Jakob Syndrome , Dataset , Dura Mater , Incidence , Insurance, Health , Korea , Models, Theoretical , Neurosurgery , Prion Diseases , TransplantsABSTRACT
Objective We characterized the clinical features of sporadic Creutzfeldt-Jakob disease(sCJD)in or?der to diagnose it at the early stage. Methods Seventeen patients with sCJD were enrolled in the study. The clinical data, symptoms at the early stage, result of auxiliary examinations and survival time were analyzed. Results The ratio of male to female was 1:1.83 and the average age of onset was 60 ± 8.8 years old. Most of them presented with walking unstable (82.4%)and hypomnesia (64.7%) as the initial symptom. The occurrence rate was 82.4%, 76.5%and 58.8%for myoclo?nus, colored-ribbon-shaped high signals in cerebral cortex and high signals in basal ganglia of MRI. Periodic synchro?nous discharge (PSD) of electroencephalography(EEG) was seen in 82.4% cases, while cerebrospinal fluid analysis re?vealed positive results for 14-3-3 protein in 70%cases. Twelve patients had been dead in our study. The median surviv?al time was 12±7.7 months. Conclusions sCJD is more frequently occurred in mid-aged and older without specific symp?toms in early stage and positive rate of high signals in cerebral cortex of MRI and PSD of EEG is high.
ABSTRACT
BACKGROUND AND PURPOSE: The level of 14-3-3 protein in the cerebrospinal fluid (CSF) is increased in Creutzfeldt-Jakob disease (CJD) patients, which has led to it being used as a clinical biomarker for the ante-mortem diagnosis of human prion diseases. However, the specificity of the 14-3-3 protein is less reliable for CJD diagnosis. Newly developed assays including real-time quaking-induced conversion (RT-QuIC) have made it possible to detect the PrPSc-like abnormal prion isoform with a high sensitivity in animal and human specimens that might contain a minute amount of PrP(Sc) due to in vitro prion replication. METHODS: This study applied a highly sensitive RT-QuIC assay using recombinant human PrP to detect PrP(Sc) in the CSF of 81 patients with sporadic CJD (sCJD) in Korea. RESULTS: RT-QuIC analysis of the CSF samples based on the expression levels of 14-3-3 and total tau proteins revealed positivity in 62 of 81 sCJD patients (sensitivity of 76.5%) but no positive results in the 100 non-CJD patients. CONCLUSIONS: The sensitivity of the RT-QuIC in this study was similar to that in some previous reports, and the specificity of RT-QuIC was higher than that of 14-3-3 in CSF, suggesting that RT-QuIC analysis can complement the weakness of the specificity of 14-3-3 for the diagnosis of sCJD. These results indicate that RT-QuIC might be very useful for the rapid and specific diagnosis of sCJD and provide a practical novel method for the ante-mortem diagnosis of human prion diseases.
Subject(s)
Animals , Humans , 14-3-3 Proteins , Cerebrospinal Fluid , Complement System Proteins , Creutzfeldt-Jakob Syndrome , Diagnosis , Korea , Prion Diseases , Sensitivity and Specificity , tau ProteinsABSTRACT
BACKGROUND: As rapidly progressive dementia (RPD), general paresis and Creutzfeldt-Jakob disease (CJD) may have overlapping clinical presentation due to a wide variety of clinical manifestations. CASE REPORT: A 57-year-old man presented with rapid progressive cognitive decline, behavioral change, ataxic gait, tremor and pyramidal signs for 3 months. In addition to these multiple systemic involvements, positive result for the cerebrospinal fluid (CSF) 14-3-3 protein tentatively diagnosed him as probable CJD. However, due to increased serum rapid plasma reagin, venereal disease research laboratory, and fluorescent treponemal antibody-absorption reactivity in CSF, the final diagnosis was changed to general paresis. CONCLUSIONS: A patient with RPD needs to be carefully considered for differential diagnosis, among a long list of diseases. It is important to rule out CJD, which is the most frequent in RPD and is a fatal disease with no cure. Diagnostic criteria or marker of CJD, such as 14-3-3 protein, may be inconclusive, and a typical pattern in diffusion-weighted imaging is important to rule out other reversible diseases.
Subject(s)
Humans , Middle Aged , 14-3-3 Proteins , Cerebrospinal Fluid , Creutzfeldt-Jakob Syndrome , Dementia , Diagnosis , Diagnosis, Differential , Gait , Neurosyphilis , Plasma , Sexually Transmitted Diseases , TremorABSTRACT
ABSTRACT The complexity of the pathological reactions of the brain to an aggression caused by an internal or external noxa represents a challenge for molecular imaging. Positron emission tomography (PET) can indicate in vivo,anatomopathological changes involved in the development of different clinical symptoms in patients with neurodegenerative disorders. PET and the multitracer concept can provide information from different systems in the brain tissue building an image of the whole disease. We present here the combination of 18F-flourodeoxyglucose (FDG) and N-[11C-methyl]-L-deuterodeprenyl (DED), FDG and N-[11C-methyl] 2-(4'-methylaminophenyl)-6-hydroxybenzothiazole (PIB), PIB and L-[11C]-3'4-Dihydrophenylalanine (DOPA) and finally PIB and [15O]H2O.
RESUMO A complexidade das reações patológicas do cérebro à agressões causadas por noxa interna ou externa representa um desafio para a imagem molecular. Tomografia por emissão de positron (PET) pode indicar, in vivo, alterações anatomopatológicas envolvidas no desenvolvimento de diferentes sintomas clínicos em pacientes com desordens neurodegenerativas. PET e o conceito de multitraçador pode fornecer informações de diferentes sistemas no tecido cerebral, construindo assim uma imagem da doença como um todo. Nós apresentamos neste artigo a combinação de 18F-flourodeoxyglucose (FDG) e N-[11C-methyl]-L-deuterodeprenyl (DED), FDG e N-[11C-methyl] 2-(4'-methylaminophenyl)-6-hydroxybenzothiazole (PIB), PIB e L-[11C]-3'4-Dihydrophenylalanine (DOPA) e finalmente, PIB e [15O]H2O .
Subject(s)
Humans , Creutzfeldt-Jakob Syndrome , Neurodegenerative Diseases , Positron-Emission Tomography , Alzheimer DiseaseABSTRACT
ABSTRACT Creutzfeldt-Jacob disease (CJD) is a rare condition caused by a pathogenic prion protein that evolves with rapidly progressive dementia and death. The clinical presentation may sometimes be misleading. Magnetic Resonance Imaging (MRI) aids diagnosis with patterns that can guide or confirm clinical hypotheses. Two cases of rapidly progressive dementia with ataxia, myoclonus and restricted diffusion on MRI in cortical/basal ganglia are presented to draw attention to CJD.
RESUMO Doença de Creutzfeldt-Jacob (CJD) é uma rara doença relacionada a uma proteína priônica patogênica que evolui com demência rapidamente progressiva e morte. Por vezes, a apresentação clínica é inespecífica e desafiadora. A ressonância magnética contribui para o diagnóstico com padrões de imagem que podem orientar ou confirmar as hipóteses diagnósticas baseadas na clínica. Serão apresentados dois casos de pacientes com a forma esporádica da doença.