Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in 13 children / 中华儿科杂志

Objective: To analyze the clinical characteristics, treatment and prognosis of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children. Methods: A retrospective analysis was performed on the clinical features, laboratory tests, neuroelectrophysiological examination, imaging, treatment and outcomes of 13 patients with Hashimoto's encephalopathy presenting with isolated cerebellar ataxia, who were admitted to the Department of Pediatric Neurology of Guangzhou Women and Children's Medical Center from January 2016 to May 2021. Results: Among the 13 cases, 6 were males and 7 were females. The onset age was 2.6 (2.0,3.3) years, 9 children had precursor infection or vaccination before the first course of disease. All the 13 children had gait abnormalities or unsteady sitting, 10 had intentional tremor, 6 had dysarthria, 3 had body tremor, 2 had nystagmus, 3 had fatigue, 3 had hypotonia, 2 had vomiting and 1 had irritability. Thyroglobulin antibody (TgAb) was 500.0 (298.9,587.2) kU/L and thyroid peroxidase antibody (TPOAb) was 621.9 (449.6,869.4) kU/L in 13 cases. Autoantibodies were positive in 9 cases, and cerebrospinal fluid leukocytosis was seen in 4 cases. Regarding electroencephalography result, 4 cases had background slowing and 1 case had occasional sharp waves. Among the 3 patients who had relapses, 1 had cerebellar atrophy shown on cranial magnetic resonance imaging (MRI) during the recurrence. All the patients received intravenous immunoglobulin (IVIG) and intensive methylprednisolone therapy during the first onset, followed by the disappearance of the symptoms, 1 patient had repeated episodes which was decreased after immunosuppressive treatment with Rituximab.Followed up for 25.0 (22.5,33.3) months after the last episode, 12 achieved complete remission and 1 had a wide base gait. Conclusions: Trunk ataxia is the common symptom of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children.Children with cerebellar ataxia should be tested for TgAb and TPOAb to detect Hashimoto's encephalopathy, avoiding missed diagnosis and treatment delays; IVIG and intensive steroid therapy is effective, and immunosuppressive therapy for patients with multiple relapses could reduce the recurrence.

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3 / Nistagmo pode ser o primeiro sinal neurológico nos estágios precoces da ataxia espinocerebelar tipo 3

Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

RESUMO Antecedentes: A ataxia espinocerebelar tipo 3 (SCA3) é a ataxia espinocerebelar de herança autossômica dominante mais comum em todo o mundo. Quase todos os pacientes com SCA3 têm nistagmo e/ou comprometimento das sácades. Objetivo: Investigar a presença de nistagmo como manifestação neurológica precoce, antes do surgimento da ataxia, em alguns pacientes com SCA3 nos primeiros seis meses de doença. Métodos: Foram avaliados 155 pacientes com diagnóstico clínico e molecular de SCA3, entre 2013 e 2020, em relação a sexo, idade, idade de início, duração da doença, expansão da repetição CAG, primeiro sintoma, presença de ataxia, pontuações nas escalas SARA e ICARS, e presença e caracterização de nistagmo. Resultados: Identificamos sete pacientes com SCA3 que apresentavam nistagmo isolado. A idade de início da doença nesses pacientes variou de 24 a 57 anos e a duração da doença variou de quatro a seis meses. Conclusões: O nosso estudo mostrou que o nistagmo pode ser o primeiro sinal neurológico na SCA3. Essa observação clínica reforça a ideia de que o processo neurodegenerativo nos pacientes com SCA3 pode se iniciar nas conexões do sistema vestibular ou no lobo floculonodular. Este estudo adiciona informações relevantes sobre características pré-sintomáticas na SCA3 e que podem servir de base para melhor entendimento da degeneração cerebral e para futuras terapias.

Different etiologies of superficial siderosis / Diferentes etiologias de siderose superficial

Superficial Siderosis (SS) is an uncommon condition caused by hemosiderin deposition into the subarachnoid space. SS is characterized by cerebellar ataxia, progressive sensorineural hearing loss and pyramidal signs, but is often an unrecognized disorder. Magnetic Resonance Imaging (MRI) is the diagnostic procedure of choice due its high sensitivity to hemosiderin deposits in addition to being a non-invasive exam. This paper aims to describe a case of SS and to perform a literature review about SS etiologies, neuroimaging features and clinical characteristics. A 65-year-old man came to a neurology outpatient clinic with seizures and cerebellar ataxia with a history of car accident and severe traumatic brain injury 45 years ago. MRI SWAN showed a hyposignal in the cisterns of the base and on the cerebellar surface and T1-weighted images left hippocampal sclerosis.

A Siderose Superficial (SS) é uma condição rara causada por depósitos de hemossiderina no espaço subaracnóideo. SS é caracterizada por ataxia cerebelar, perda neurosensorial auditiva progressiva e sinais piramidais, mas é frequentemente uma desordem de difícil diagnóstico. A Ressonância Magnética (RM) é o exame de escolha para o diagnóstico devido a sua alta sensibilidade aos depósitos de hemossiderina, além de ser um exame não invasivo. Este artigo tem como objetivo descrever um caso de SS e realizar uma revisão da literatura sobre as etiologias da SS, suas características na neuroimagem e suas características clínicas. Um homem de 65 anos de idade procurou o ambulatório de neurologia com convulsões e ataxia cerebelar. Ele informou histórico de acidente automobilístico e lesão cerebral traumática grave há 45 anos. A RNM SWAN mostrou hipossinal nas cisternas da base e na superfície cerebelar e as imagens em T1 evidenciaram a presença de esclerose hipocampal esquerda.

"Este caso me desorientó... " / "This case disoriented me..."

Paciente masculino de 66 años que se presentó al servi-cio de guardia y urgencias por cuadro clínico caracteriza-do por mareos de 3 meses de evolución e inestabilidad de la marcha de 24 hs de evolución. Como único signo positi-vo al examen físico se constató dismetría de miembros su-periores. Se decidió estudiar con TC de cerebro en donde se identificó, en topografía pineal y tercer ventrículo, una voluminosa lesión ocupante de espacio, sólida, de aproxi-madamente 27 x 21 mm de densidad heterogénea, con pro-bable relación a restos hemáticos en distintos estadios evo-lutivos asociada a calcificaciones periféricas

Aplicação simultânea de estimulação transcraniana por corrente contínua cerebelar anódica para reabilitação do equilíbrio na ataxia cerebelar: relato de caso / Application of add-on anodal cerebellar direct current stimulation for balance rehabilitation in cerebellar ataxia: a case report

INTRODUÇÃO: As ataxias cerebelares são um extenso grupo de doenças que causam diversos distúrbios na marcha e no equilíbrio, e que comprometem seriamente a qualidade de vida, sem opções de tratamento eficazes. A cinesioterapia é a base de programas multifacetados que incorporam mais de um enfoque, como o treinamento de coordenação e equilíbrio. Recentemente, a estimulação transcraniana por corrente contínua (tDCS) sobre o cerebelo surgiu como uma intervenção para melhorar os distúrbios do equilíbrio. OBJETIVO: Descrever a aplicação simultânea de tDCS anódica cerebelar e cinesioterapia, em sessões múltiplas diárias para reabilitação da ataxia cerebelar. MATERIAIS E MÉTODOS: Este relato de caso incluiu um paciente do sexo masculino, de 34 anos, com história de ataxia espinocerebelar há 10 anos. Seus principais objetivos eram melhorar a marcha e o equilíbrio. Ele apresentava ataxia axial e apendicular, dificuldades na marcha e no equilíbrio. O protocolo de estimulação do cerebelo consistiu na aplicação de tDCS por 20 minutos, 2mA, diariamente, durante duas semanas, com ânodo posicionado sobre o ínion e cátodo sobre o músculo deltóide direito. A cinesioterapia simultânea incluiu exercícios funcionais progressivos com objetivo principal de treinamento de equilíbrio. RESULTADOS: A melhora clínica foi particularmente evidenciada por uma redução de 4 pontos na Escala para Avaliação e Graduação da Ataxia após 10 sessões, enquanto a literatura recomenda a eficácia de uma nova terapia que retardaria a progressão da ataxia em 1 ponto por ano. CONCLUSÃO: Nossos resultados sugerem que a associação entre tDCS e cinesioterapia foi eficaz neste paciente; as sessões de tDCS foram seguras e bem toleradas e podem ter desempenhado um papel na melhora nos testes funcionais. Novos estudos controlados envolvendo um número maior de pacientes são necessários para analisar os benefícios destas técnicas combinadas para maximizar a reabilitação motora nesta população.

INTRODUCTION: Cerebellar ataxias are an extensive group of diseases, which cause many disorders in gait and balance that seriously impair quality of life, and without effective treatment options. Kinesiotherapy is the basis of multifaceted programs that incorporate more than one focus, such as coordination and balance training. Recently, transcranial direct current stimulation (tDCS) over the cerebellum has emerged as an intervention to improve balance disorders. OBJECTIVE: To describe a daily multiple session's simultaneous application of anodal cerebellar tDCS to kinesiotherapy for rehabilitation in cerebellar ataxia. MATERIALS AND METHODS: This case report included a 34-year-old male patient with a 10-year history of spinocerebellar ataxia. His main goals were to improve his walking ability and balance. He presented with axial and appendicular ataxia, impaired gait, and balance. The protocol used to stimulate the cerebellum consisted of twenty-minute tDCS, 2mA, daily applied, over two weeks, with anode positioned over the inion and cathode over the right deltoid muscle. Simultaneous kinesiotherapy included progressive functional exercises with the main objective of balance training. RESULTS: Clinical improvement was particularly evidenced by a 4-point reduction in the Scale for the Assessment and Rating of Ataxia after ten sessions, while literature recommends efficacy of a new therapy that would retard ataxia progression by 1 point per year. CONCLUSION: Our results suggest that the association between tDCS and kinesiotherapy was effective in this patient; tDCS sessions were safe and well-tolerated and may have played a role in improving functional tests. Further controlled studies involving a larger number of patients are needed to analyze the benefits of these combined techniques to maximize motor rehabilitation in this population.

Glioblastoma de células gigantes: informe de un caso / Giant cell glioblastoma: case report

Antecedentes: El Glioblastoma (GB) o astrocitoma grado IV, es un tumor agresivo que se origina de células gliales, con alto grado de malignidad, prevalencia menor al 1% en fosa posterior e incidencia menor al 0.5% de todos los GB. Actualmente se describen alrededor de 75 casos a nivel mundial. Descripción del caso clínico: Femenina, 24 años, referida a emergencia de Neurocirugía del Hospital Escuela Universitario, presentó cefalea holocraneana intensa, vómitos, náuseas, visión borrosa, vértigo y anorexia. Al examen neurológico mostró discreta adiadococinesia derecha y signos de papiledema. La tomografía axial computarizada cerebral evidenció lesión heterogénea en vermis extendido a hemisferio cerebeloso derecho, por lo que se realizó craniectomía suboccipital, abordaje transcerebelar, con citorreducción tumoral, encontrando masa vascularizada con componente quístico. Estudio anatomopatológico evidenció glioblastoma multiforme variante de células gigantes, confirmado con tinción de inmunohistoquímica (PFGA, CD34+ y vimentina). Paciente con buena evolución clínica postquirúrgica, egresada sin déficit neurológico. 16 meses después, presentó síndrome de recidiva tumoral y complicaciones, por lo que se reintervino en 4 ocasiones, posterior a recibir 30 dosis de radioterapia y 12 ciclos de quimioterapia, se reingresó con deterioro neurológico progresivo, signos meníngeos y síndrome de Parinaud, escala de Karnofsky (30 puntos), realizándose derivación ventrículo-peritoneal por compresión del IV ventrículo e hidrocefalia obstructiva secundaria, luego desarrolló neumonía intrahospitalaria, falleciendo a las dos semanas. Conclusiones: Es importante identificar la variante biológica del glioblastoma de forma temprana, para determinar pronóstico y acciones terapéuticas que influirán en la calidad de vida, así como la supervivencia...(AU)

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review / Evidências e práticas do uso do sequenciamento de nova geração em pacientes com ataxias cerebelares autossômicas dominantes não diagnosticadas: uma revisão

ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.

RESUMO As ataxias cerebelares autossômicas dominantes (ACAD) são doenças heterogêneas com fenótipo e genótipo altamente variáveis. Podem ser divididas em ataxia episódica e ataxia espinocerebelar (SCA), sendo este último considerado o protótipo do ACAD. A maior parte das ACAD são causadas por expansões de poliglutaminas, principalmente SCA 1, 2, 3, 6, 7, 17 e atrofia dentatorubro-palidoluisiana (DRPLA). No entanto, 30% dos pacientes permanecem sem diagnóstico após o teste para essas SCA mais comuns. Recentemente, vários estudos têm demonstrado que a nova geração de métodos de sequenciamento são ferramentas úteis para o diagnóstico desses pacientes. Esta é uma revisão sistemática da literatura, com foco em sua utilidade na prática clínica e em perspectivas futuras.

Ataxias cerebelosas e infecciones virales: caracterización clínica y mecanismos neuropatogénicos / Cerebellar ataxias and viral infections: clinical characterization and neuropathogenic mechanisms

Introducción: La ataxia constituye una alteración en la coordinación de los movimientos, resultado de una disfunción del cerebelo, sus conexiones, así como alteraciones en la médula espinal, nervios periféricos o una combinación de estas condiciones. Las ataxias se clasifican en hereditarias, esporádicas y en adquiridas o secundarias, en las cuales los virus neurotrópicos constituyen los principales causantes. Objetivo: Actualizar los conocimientos relacionados con las ataxias causadas por virus neurotrópicos y los mecanismos neurodegenerativos que pudieran tener relación con la ataxia. Métodos: Se realizó una revisión bibliográfica incluyendo artículos publicados en las principales bases de datos bibliográficas (Web of Sciences, Scopus, SciELO). Se utilizaron las palabras claves: ataxia, virus neurotrópicos, ataxias cerebelosas, ataxias infecciosas, en inglés y español. Análisis e integración de la información: Los virus más conocidos que provocan ataxias infecciosas son el virus de inmunodeficiencia humana, virus del herpes simple, virus del herpes humano tipo 6, virus de la varicela zoster, virus Epstein-Barr, virus del Nilo Occidental, y enterovirus 71, aunque existen otros virus que causan esta afectación. Los mecanismos neuropatogénicos sugeridos son la invasión directa del virus y procesos inmunopatogénicos desencadenados por la infección. Estos virus pueden causar ataxia cerebelosa aguda, ataxia aguda posinfecciosa, síndrome opsoclono-mioclono-atáxico y ataxia por encefalomielitis aguda diseminada. Aunque la mayoría de los reportes de casos informan la evolución satisfactoria de los pacientes, algunos refieren complicaciones neurológicas e incluso la muerte. Conclusiones: Actualmente existe la necesidad de profundizar en el estudio de este tipo de ataxia para favorecer su diagnóstico y tratamiento(AU)

Introduction: Ataxia is an alteration in the coordination of movements caused by a dysfunction of the cerebellum and its connections, as well as alterations in the spinal cord, the peripheral nerves, or a combination of these factors. Ataxias are classified into hereditary, sporadic and acquired or secondary, in which neurotropic viruses are the main causative agents. Objective: Update knowledge about ataxias caused by neurotropic viruses and the neurodegenerative mechanisms which could bear a relationship to ataxia. Methods: A review was conducted of papers published in the main bibliographic databases (Web of Sciences, Scopus, SciELO), using the search terms ataxia, neurotropic virus, cerebellar ataxias, infectious ataxias, in English and in Spanish. Discussion: The best known viruses causing infectious ataxias are the human immunodeficiency virus, herpes simplex virus, human herpesvirus 6, varicella zoster virus, Epstein-Barr virus, Western Nile virus and enterovirus 71, though other viruses may also cause this condition. The neuropathogenic mechanisms suggested are direct invasion of the virus and immunopathogenic processes triggered by the infection. These viruses may cause acute cerebellar ataxia, acute postinfectious ataxia, opsoclonus-myoclonus-ataxia syndrome and ataxia due to acute encephalomyelitis disseminata. Though most case reports describe a satisfactory evolution of patients, some refer to neurological complications and even death. Conclusions: There is a current need to carry out further research about this type of ataxia to improve its diagnosis and treatment(AU)

Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

The Rise of Cerebellar Ataxia in South Korea: 2002–2016

No abstract available.

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.

Cardiomyopathy as the first manifestation of Friedreichs ataxia

We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including marked loss of muscle mass, gait instability, muscle clonus, and Babinski's signal. At age 27, she had a stroke and was hospitalized; a few days later, she had a cardiorespiratory arrest with asystole, leading to death. The autopsy disclosed severe cardiomyopathy and significant myocardial replacement with fibrosis; therefore, the cause of death was assumed to be heart failure. Compared to the literature, our case has some unique features, such as cardiac disease as the presenting manifestation instead of gait instability, which is the major initial sign in most FA cases. Since our patient was submitted to an autopsy, it was an opportunity to retrieve important data to confirm the diagnosis and to evaluate the pathophysiology of this entity, such as myocardium fibrosis and cerebellar degeneration. In summary, our case demonstrates that cardiac disease can be the first manifestation of FA, with eventual diagnostic and prognostic implications. In addition, the autopsy provided findings of severe cardiomyopathy associated with FA.

Clinical analysis of 4 cases of Wernekink commissure syndrome / 中南大学学报(医学版)

Wernekink commissure syndrome (WCS) is very rare. Four patients with WCS, admitted to our hospital from April to May 2018, were chosen for this study, and their clinical manifestations, imaging features, and etiology were retrospectively analyzed based on the literatures. All patients with WCS manifested as bilateral cerebellar ataxia such as symmetrical limb and trunk ataxia, but the degree of ataxia was asymmetrical distribution based on the anatomy. Dysarthria was the main and constant clinical manifestation of the syndrome. Ophthalmoplegia had great variability, and WCS with oculomotor nerve palsy may be considered as atypical WCS. The incidence of olivary degeneration and palatine myoclonus is relatively low, which may be related to the difference in the reported time intervals of cases. Changes in consciousness and emotion may be the characteristic of neglected WCS, which should be paid more attention. Cerebral infarction is the main etiology of WCS. We reported that cerebral infarction and WCS was the first symptom in a patient with systemic lupus erythematosus (SLE). We should pay more attention to special etiology in diagnosis and treatment of WCS.

Acute cerebellar ataxia: differential diagnosis and clinical approach / Ataxia cerebelar aguda: diagnóstico diferencial e abordagem clínica

ABSTRACT Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring a true neurological emergency. Acute cerebellar ataxia is a syndrome that occurs in less than 72 hours, in previously healthy subjects. Acute ataxia usually results in hospitalization and extensive laboratory investigation. Clinicians are often faced with decisions on the extent and timing of the initial screening tests, particularly to detect treatable causes. The main group of diseases that may cause acute ataxias discussed in this article are: stroke, infectious, toxic, immune-mediated, paraneoplastic, vitamin deficiency, structural lesions and metabolic diseases. This review focuses on the etiologic and diagnostic considerations for acute ataxia.

RESUMO A ataxia cerebelar é um achado comum na prática neurológica e tem uma grande variedade de causas, desde a degeneração cerebelar crônica e lentamente progressiva à lesão cerebelar aguda devido a infarto, edema ou hemorragia, configurando uma verdadeira emergência neurológica. Ataxia cerebelar aguda é uma síndrome que ocorre em menos de 72 horas em indivíduos previamente saudáveis. A ataxia aguda geralmente resulta em hospitalização e extensa investigação laboratorial. Os clínicos são frequentemente confrontados com a decisão sobre a extensão e o momento dos testes de rastreio iniciais, em particular para detectar as causas tratáveis. O principal grupo de doenças que podem causar ataxias agudas discutidas neste artigo são: acidente vascular cerebral, infecciosas, tóxicas, imunomediadas, paraneoplásicas, deficiência de vitaminas, lesões estruturais e doenças metabólicas. Esta revisão enfoca a etiologia e considerações diagnósticas para a ataxia aguda.

Doença de Creutzfeldt-Jakob: relato de caso / Creutzfeldt-Jakob disease: case report

As doenças priônicas fazem parte do grupo das síndromes de demência rapidamente progressiva com neurodegeneração. Em humanos, a doença de Creutzfeldt-Jakob é a mais prevalente. Atualmente, seu diagnóstico pode ser baseado em uma combinação do quadro clínico, ressonância magnética e eletroencefalograma com alterações típicas, juntamente da detecção de proteína 14- 3-3 no líquido cefalorraquidiano. Este relato descreve o caso de uma paciente de 74 anos, natural de Ubá (MG), admitida em um hospital da mesma cidade com quadro de demência de rápida progressão, com declínio cognitivo, ataxia cerebelar e mioclonias. No contexto clínico, aventou-se a possibilidade de doença de Creutzfeldt-Jakob e, então, foi iniciada investigação para tal, com base nos critérios diagnósticos. Também foram realizados exames para descartar a possibilidade de doenças com sintomas semelhantes. O caso foi diagnosticado como forma esporádica de doença de Creutzfeldt-Jakob. (AU)

Prion diseases are part of the rapidly progressive dementia syndromes with neurodegeneration. In humans, Creutzfeldt-Jakob disease is the most prevalent. Currently, its diagnosis may be based on a combination of clinical picture, magnetic resonance imaging, and electroencephalogram with typical changes, along with the detection of 14-3-3 protein in cerebrospinal fluid. This report describes the case of a 74-year-old woman from the city of Ubá, in the state of Minas Gerais, who was admitted to a hospital in the same city with a rapidly progressive dementia, cognitive decline, cerebellar ataxia and myoclonus. In the clinical context, the possibility of Creutzfeldt-Jakob disease was raised, and then investigation was started for this disease, based on the its diagnostic criteria. Tests have also been conducted to rule out the possibility of diseases with similar symptoms. The case was diagnosed as a sporadic form of Creutzfeldt-Jakob disease. (AU)