Experiencia con la enfermedad de Creutzfeldt-Jakob de un único centro de referencia en México. Análisis de una serie de casos / Experience with Creutzfeldt-Jakob disease in a single referral center in Mexico. Case series

Resumen Introducción: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. Objetivo: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. Métodos: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. Resultados: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. Conclusiones: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.

Abstract Introduction: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. Objective: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. Methods: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. Results: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. Conclusions: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.

Mental disorder caused by prion disease misdiagnosed as depressive episode：a case report / 四川精神卫生

This paper reported a case of a 29-year-old male patient with mental disorder caused by prion disease was misdiagnosed as depressive episode with somatic symptoms. The patient's symptoms were initially predominantly psychiatric， with progressive worsening of somatic symptoms， and he died more than 1 year after his first onset. Prion disease caused various manifestations of mental symptoms， which can easily lead to missed diagnosis and misdiagnosis. This paper discussed the case， in order to provide references for the clinical diagnosis of mental disorder caused by prion disease.

Bilateral hearing loss as an initial presentation of Creutzfeldt-Jakob disease / Perda auditiva bilateral como uma apresentação inicial da doença de creutzfeldt-jakob

ABSTRACT. We reported a case of a 61-year-old male patient with anacusis, cerebellar syndrome, myoclonus, and frontal signs. The brain magnetic resonance imaging showed bilateral striated hyperintensity of the fluid-attenuated inversion recovery and restricted diffusion in the diffusion-weighted imaging and hypointense areas corresponding to the apparent diffusion coefficient in the cerebral cortex. The autopsy revealed positive immunohistochemistry for the PrPSc protein. Creutzfeldt-Jakob disease presenting with hearing loss is unusual.

RESUMO. Relatamos o caso de um paciente do sexo masculino, 61 anos, com anacusia, síndrome cerebelar, mioclonia e sinais frontais. A ressonância magnética cerebral mostrou hiperintensidade estriada bilateral do fluid-attenuated inversion recovery (FLAIR) e difusão restrita no diffusion-weighted imaging (DWI) e áreas hipointensas correspondendo ao coeficiente de difusão aparente no córtex cerebral. A autópsia revelou imuno-histoquímica positiva para a proteína PrPSc. A doença de Creutzfeldt-Jakob que se apresenta com perda auditiva é incomum.

Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease / 神经科学通报·英文版

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.

Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease / 神经科学通报·英文版

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.

Atypical Gerstmann-Sträussler-Scheinker syndrome caused by PRNP P102L mutation: a case report and literature review / 中华神经科杂志

Objective@#To improve the clinician′s recognition of Gerstmann-Sträussler-Scheinker syndrome (GSS).@*Methods@#The detailed clinical information, neuropsychological examination, cerebrospinal fluid examination, imaging characteristics, electroencephalogram examination and gene detection were analyzed in a case of GSS similar to Creutzfeldt-Jakob disease (CJD) in symptomatology. The differences between the two different prion diseases were compared in combination with the literature review.@*Results@#The patient is a 62-year-old woman, with cerebellar ataxia as the first symptom, followed by rapid dementia, accompanied by pyramidal and extrapyramidal signs. Magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in caudatum and cortical ribboning, and protein 14-3-3 was negative. PRNP gene analysis showed P102L gene mutation.@*Conclusions@#The typical clinical manifestation of GSS is hereditary ataxia followed by cognitive decline of varying severity. Detection of PRNP plays an important role in the diagnosis of GSS.

Atypical Gerstmann-Str(a)ussler-Scheinker syndrome caused by PRNP P102L mutation: a case report and literature review / 中华神经科杂志

Objective To improve the clinician's recognition of Gerstmann-Str(a)ussler-Scheinker syndrome (GSS).Methods The detailed clinical information,neuropsychological examination,cerebrospinal fluid examination,imaging characteristics,electroencephalogram examination and gene detection were analyzed in a case of GSS similar to Creutzfeldt-Jakob disease (CJD) in symptomatology.The differences between the two different prion diseases were compared in combination with the literature review.Results The patient is a 62-year-old woman,with cerebellar ataxia as the first symptom,followed by rapid dementia,accompanied by pyramidal and extrapyramidal signs.Magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in caudatum and cortical ribboning,and protein 14-3-3was negative.PRNP gene analysis showed P102L gene mutation.Conclusions The typical clinical manifestation of GSS is hereditary ataxia followed by cognitive decline of varying severity.Detection of PRNP plays an important role in the diagnosis of GSS.

Preparation of PrP-specific Polyclonal Antibody Immunization of -knockout Mice with Recombinant Human PrP Protein / 生物医学与环境科学（英文）

Objective@#The definite diagnosis of human and animal prion diseases depends on the examination of special pathological changes and/or detection of PrP in the brain tissues of suspected cases. Thus, developing methods to obtain PrP antibody with good specificity and sensitivity is fundamental for prion identification.@*Methods@#We prepared a PrP-specific polyclonal antibody (pAb P54) in a -knockout mouse model immunization with recombinant full-length human PrP protein residues 23-231. Thereafter, we verified that pAb in Western blot, immunohistochemistry (IHC), and immunofluorescent (IFA) assays.@*Results@#Western blot illustrated that the newly prepared pAb P54 could react with recombinant PrP protein, normal brain PrP from healthy rodents and humans, and pathological PrP in the brains of experimental rodents infected with scrapie and humans infected with different types of prion diseases. The electrophoretic patterns of brain PrP and PrP observed after their reaction with pAb P54 were nearly identical to those produced by commercial PrP monoclonal antibodies. Three glycosylated PrP molecules in the brain homogenates were clearly demonstrated in the reactions of these molecules with pAb P54. IHC assay revealed apparent PrP deposits in the GdnCl-treated brain slices of 139A-infected mice and 263K-infected hamsters. IFA tests with pAb P54 also showed clear green signals surrounding blue-stained cell nuclei.@*Conclusion@#The newly prepared pAb P54 demonstrated reliable specificity and sensitivity and, thus, may have potential applications not only in studies of prion biology but also in the diagnosis of human and experimental rodent prion diseases.

Enfermedad de Creutzfeldt-Jakob / Creutzfeldt-Jakob disease

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.

Clinics in diagnostic imaging (193). Sporadic Creutzfeldt-Jakob disease (sCJD)

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.

Ubiquitin C-terminal Hydrolase L1 Regulates Lipid Raft-dependent Endocytosis

Ubiquitin C-terminal hydrolase L1 (UCH-L1) is a deubiquitinating enzyme that is highly expressed in neurons, and gathering evidence indicates that UCH-L1 may play pathogenic roles in many neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease (PD). Additionally, lipid rafts have attracted interest in neurodegeneration as playing a common role in many neurodegenerative diseases. In the present study, we demonstrated that UCH-L1 associates with lipid rafts as with other PD-associated gene products. In addition, UCH-L1 regulates lipid raft-dependent endocytosis and it is not dependent on the expression and degradation of caveolin-1 or flotillin-1. Finally, UCH-L1 regulates cell-to-cell transmission of α-synuclein. This study provides evidence that many PD-associated gene products share common signaling pathways to explain the pathogenesis of PD.

Association between prion infection and Ryanodine receptor 2 in scrapie-263 K infected hamster / 中华实验和临床病毒学杂志

Objective@#To classify the expression of RyR2 in the brain of prion infected hamsters.@*Methods@#Immunohistochemical assays was used to verify that the location of RyR2 in the brain slices of hamster. Assays of the brain samples of intracranial inoculation of scrapie infected hamster (agent 263 K) and normal hamster were tested to evaluate the RyR2 expression by Western Blotting. Immunofluorescent assays were used to verify the co-location between RyR2 and PrP protein.@*Results@#RyR2 mainly located in cortex and Purkinje cells with parts of which are distributed in thalamus, hippocampus and olfactory bulb. The expression of RyR2 significantly decreased in the 263 K infected hamster at terminal stage. The Immunofluorescence tests showed that RyR2 was colocalized with PrP protein.@*Conclusions@#The experimental data showed that RyR2 may play a crucial role in prion disease, which might be closely linked to the cognition impairment and neuron loss. The relation between RyR2 and prion disease still needs further research.

Study on the regulation of microRNA-375 on PDK1 expression in brain tissue of scrapie agent 139 A infected mice / 中华实验和临床病毒学杂志

Objective@#To investigate the regulation of microRNA-375(miR-375) on the expressions of 3’-phosphoinositide-dependent kinase 1 (PDK1) in the brain tissues of scrapie agent 139 A infected mice.@*Methods@#PDK1 protein in 139 A infected mice brain tissue was detected by WB and immunochemistry. The change of microRNA-375 was detected by reverse transcription polymerase chain reaction (RT-PCR) and next-generation sequencing method . The pmiR-REPORT reporter system was used to value the regulation of miR-375 on PDK1 3’-untranslated region (3’UTR).@*Results@#The expression of PDK1 in the brain tissue of 139 A infected mice was significantly increased as compared to that of control group, while the expression of miR-375 was decreased. The result of pmiR-REPORT reporter system showed that PDK1 3’UTR was the regulation target of miR-375.@*Conclusions@#The expression of PDK1 in the brain tissue of 139 A infected mice was significantly increased, which was probably related to the regulation of miR-375 on the 3’UTR of PDK1.

Differential proteomic analysis of human genetic prion disease patients in frontal lobe tissues / 中华实验和临床病毒学杂志

Objective@#To search for biomarkers for human familial prion disease.@*Methods@#Two-dimensional differential gel electrophoresis (2D-DIGE) proteomic analysis has been performed in frontal lobe tissues of 3 patients suffering from human familial prion disease (PrP) and 3 age-and sex-matched patients suffering from sudden death due to heart failure without neurological disease.@*Results@#The maps revealed 14 polypeptide chains differentially modulated in the PrP samples, among those, 7 could be identified upon digestion and MALDI-TOF/MS analysis, of which 6 appeared to be up-regulated, 1 being down-regulated.@*Conclusions@#We highlight Galectin-1(Gal-1), ryanodine receptor 2 (RyR2), ubiquitin, Rab-interacting lysosomes protein-like protein 1 (RILPL-1) profillin 2 (PFN2), in the differential map. These proteins are related to neurogenesis, the clearance of misfolded proteins, stasis of calium channel, myoclonus and so on. These proteins are potential biomarkers or targets for treatment of prion disease.

Enfermedad de Creutzfeldt-Jakob familiar: a propósito de un caso de demencia rápidamente progresiva en Chile / Creutzfeldt-Jakob familial disease: about a rapidly progressive dementia case in Chile

La enfermedad de Creutzfeldt-Jakob (ECJ) corresponde una enfermedad por priones, la cual se manifiesta como demencia rápidamente progresiva. Dentro de sus manifestaciones clínicas puede presentar deterioro cognitivo progresivo y mioclonías, entre otros. El objetivo de este trabajo es dar a conocer la ECJ de variante familiar, mediante la presentación de un caso clínico. Presentación del caso: Paciente de 67 años, con antecedentes de familiares fallecidos por ECJ, previamente autovalente, que consulta por cuadro de 2 meses de evolución, caracterizado por deterioro cognitivo progresivo, desorientación temporo-espacial, mioclonías y apraxia ideomotora principalmente. Dentro del estudio realizado durante su hospitalización, destaca resonancia magnética de cerebro que describe hiperintensidad de señal bilateral simétrica en ganglios basales y cortezas frontales paramedianas. Además de electroencefalograma (EEG) que muestra descargas agudas de morfología trifásica. Esto junto a la clínica y exámenes complementarios permiten plantear una probable ECJ de variante familiar. Discusión: La aproximación diagnóstica a la ECJ es principalmente clínica, siendo el estudio histopatológico mediante biopsia cerebral el GOLD standard. Dentro de los estudios fundamentales que apoyan el diagnóstico de ECJ, se encuentra la resonancia magnética (RM) y EEG característicos. El diagnóstico de la variante familiar de ECJ se basa en el estudio genético del codón 200 y 129. Se expone una enfermedad no conocida de forma completa, de la cual aún no existen métodos diagnostico totalmente certeros, salvo por la biopsia. Es por esto que los aspectos clínicos son de gran relevancia para su sospecha, representando un desafío para el medico actual.

Introduction: Creutzfeldt-Jakob disease (CJD) is a prion disease, which manifests itself as a rapidly progressive dementia. Within its clinical manifestations may present progressive cognitive impairment and myoclonus, among others. The aim of this paper is to present the familal-type CJD by presenting a clinical case. Case Report: 67-year-old patient with a history of relatives who died of CJD, previously autovalent that consults for a 2 months period characterized by progressive cognitive impairment, time and space disorientation, myoclonus and ideomotor apraxia. In the study carried out during his hospitalization, he was studied with a brain magnetic resonance that describes symmetrical bilateral signal hyperintensity in basal ganglia and paramedian frontal cortex. In addition the electroencephalogram (EEG) showed acute discharges of three-phase morphology. These findings together, with the clinical manifestations and complementary tests allowed to raise a probable familial CJD. Discussion: The diagnostic approach to CJD is mainly clinical, with the GOLD standard being the histopathological study using cerebral biopsy. Among the fundamental studies that support the diagnosis of CJD are the characteristic MRI and EEG. The diagnosis of the familial type of CJD is based on a genetic study of codon 200 and 129. This case exposes a disease of which is not yet fully known which there are still no completely accurate diagnostic methods, except for the biopsy. That is why the clinical aspects are of great relevance to suspect it, representing a challenge for the current doctor.

Doenças de ovinos diagnosticadas no Laboratório de Anatomia Patológica Animal da Universidade Federal de Mato Grosso do Sul (1996-2010) / Sheep diseases diagnosed at the Laboratory of Animal Pathology, Federal University of Mato Grosso do Sul, Brazil (1996-2010)

Nas últimas décadas a pecuária ovina cresceu significativamente no Brasil. Concomitantemente, grupos de pesquisas e laboratórios de diagnósticos realizam estudos retrospectivos com a finalidade de fornecer subsídios técnico-científicos para os médicos veterinários. Desta forma, realizou-se um estudo de prevalência nos arquivos do Laboratório de Anatomia Patológica Animal (LAP) da Universidade Federal de Mato Grosso do Sul (UFMS) no período de Janeiro de 1996 a Dezembro de 2010. O Laboratório de Bacteriologia da UFMS e o Setor de Patologia Veterinária da Universidade Federal do Rio Grande do Sul forneceram apoio diagnóstico nos casos de mannheimiose pulmonar e scrapie, respectivamente. Os laudos da espécie ovina foram revisados e agrupados em conclusivos e inconclusivos, dos quais foram excluídos os casos experimentais e de outros estados e países. Os casos conclusivos foram classificados de acordo com a etiologia da doença. Os exames da espécie ovina somaram 331 laudos (3,97 %) de um total de 8.333 casos diagnosticados no período. Destes, foram excluídos sessenta e quatro (19,3%) casos experimentais e materiais oriundos de outros estados ou países. Dos 267 casos remanescentes, 87 (32,6%) foram inconclusivos e 180 (67,4%) considerados conclusivos, sendo 60 (33,3%) doenças infecciosas e parasitárias; 45 (25%) intoxicações e toxi-infecções; 41 (22,8%) "lesões sem causa definida"; 22 (12,2%) doenças metabólicas e nutricionais; 10 (5,6%) foram classificadas como "outros distúrbios" e 2 (1,1%) neoplasmas. A hemoncose, intoxicação por Brachiaria spp., pleuropneumonias, broncopneumonias, pneumonias fibrinonecrosante ou fibrinossupurativa sem causa definida e a intoxicação por cobre foram as doenças mais prevalentes no período estudado. Dois casos de scrapie foram diagnosticados no período.

Sheep farming has increased significantly in Brazil during the last decades. Concurrently, research groups and diagnostic laboratories compile data and perform retrospective studies to provide important insight for professionals. A prevalence study from January 1996 to December 2010 was carried out in the archives of Laboratório de Anatomia Patológica Animal (LAP), Universidade Federal de Mato Grosso do Sul (UFMS). Laboratório de Bacteriologia, UFMS, and Setor de Patologia Veterinária at Universidade Federal do Rio Grande do Sul helped on the diagnostic of pulmonary mannheimiosis and scrapie respectively. The reports for sheep were reviewed and grouped into conclusive and inconclusive ones. The conclusive cases were classified according to the etiology of the disease. In the period, 331 exams (3.97%) were done. Sixty-four experimental cases and materials from other states or countries (19.3%) were excluded. Remaining cases (267), eighty-seven (32.6%) were inconclusive and 180 (67.4%) were considered conclusive reports, were classified according to the etiology: 60 (33.3%) infectious and parasitary diseases; 45 (25%) were poisonings and toxi-infections; 41 (22.8%) were summarized as "injuries without apparent cause"; 22 (12.2%) cases of metabolic and nutritional diseases; 10 (5.6%) were classified as "other disorders" and 2 (1.1%) case of neoplasms. Haemonchosis, fibrinonecrotic or fibrinopurulent pleuropneumonia, bronchopneumonia and pneumonia, poisonings by Brachiaria spp. and copper poisoning were the most prevalent diseases in sheep. Two cases of scrapie have been diagnosed in this period.

Doença priônica: relato do primeiro caso notificado da forma esporádica da doença de Creutzfeldt-Jakob em Brasília, Distrito Federal / Creutzfeldt-Jakob disease sporadic form: report of the first notified case in Brasília, Distrito Federal

A doença de Creutzfeldt-Jakob é uma encefalopatia espongiforme causada por príon, que leva à demência rapidamente progressiva e pode se manifestar com ampla heterogeneidade de sintomas neurológicos e psiquiátricos. Relata-se o primeiro caso notificado de paciente do Distrito Federal com o diagnóstico da doença, confirmado por método histopatológico.

Creutzfeldt-Jakob disease is a spongiform encephalopathy caused by prion, leading rapidly to progressive dementia with a wide range of neurologic and psychiatric symptoms. We report the first notified case of a patient resident in Brasília, Distrito Federal, Brazil, with Creutzfeldt-Jakob disease confirmed by pathological study.

Studies on heredity rule of the first genealogy regarding fatal familial insomnia in Henan province / 中华流行病学杂志

Objective To investigate the epidemiological,genealogic characteristic,familial history of the families with fatal familial insomnia,its clinical and pathological features as well as the heredity rule of related genes.Methods 135 familial members of 7 eras were studied.Vein blood samples from patients as well as from some familial members were collected.PRNP gene was studied with PCR,its serial was determined and then authenticated with Nsp I.Brain tissue was obtained for neuropathological test and PrPSc test with Western blot method.Results Clinical symptoms of the 2 diagnosed cases were typical.11 familial members died of similar neural disease.32 samples of their familial members,codon at D178N of PRNP of 11 members was mutated,with mutation rate as 34.38% while D129N showed as methionine.Brain tissue of both probands denaturalized into spongiform and the nerve fiber was absent but PrPSc protein was identified.Conclusion Genealogy was described in the family with fatal familial insomnia since the patients had typical clinical symptoms and pathological characteristics.It seemed necessary to confirm cases of fatal familial insomnia and their genealogy with epidemiological data and to investigate its gene characteristics as well as with neuropathological and Western blot tests.

Creutzfeldt-Jakob: primeiro relato de caso no Rio Grande do Sul / Creutzfeldt-Jakob: first case report in Rio Grande do Sul

A doença de Creutzfeldt-Jakob (DCJ) é a doença priônica mais freqüente nos seres humanos. Apresentamos um caso de DCJ tipo esporádico de um homem de 56 anos que iniciou com quadro de apatia, agressividade eventual e déficit de memória recente, rapidamente desenvolvendo ataxia de marcha, mioclonias generalizadas, sintomatologia piramidal e agravamento dos sintomas comportamentais e cognitivos. O EEG demonstrou complexos periódicos e o exame do líquido cefalorraqueano para pesquisa de proteína 14-3-3 foi reagente. Evoluiu para mutismo acinético e óbito por complicações clínicas cinco meses após o início dos sintomas. São discutidos os métodos diagnósticos, as expectativas sobre a identificação de fatores de transmissão e os mecanismos de bloqueio de progressão (AU)

Creutzfeldt-Jakob Disease (CJD) is the most frequent prion disease in humans. A case of sporadic form of CJD is presented. A 56 year-old white male presented with behavior modification, apathy and aggressiveness, rapidly progressing to cognitive decline, gait ataxia, generalized myoclonus and pyramidal signs. The EEG showed periodic complexes and the cerebrospinal fluid was positive for the 14-3-3 protein. He developed akinetic mutism and died of clinical complications 5 months after the onset of the symptoms. The clinical characteristics, laboratory findings, differential diagnosis, mechanisms of transmission and the therapeutic attempts are discussed (AU)