Gluten Ataxia and mGluR1 Autoimmune Encephalitis Presenting as Acute Cerebellar Ataxia: A Case Report.

A Caucasian male in his 60s presented with acute onset of dizziness, dysarthria, and gait ataxia. Upon extensive workup, positive findings were cerebrospinal fluid (CSF) showing lymphocytic pleocytosis with oligoclonal bands, positive celiac disease autoantibodies in blood, a duodenal biopsy indicating lymphocytic infiltration, and positive anti-mGluR1 antibody titers in CSF. The patient was started on a strict gluten-free diet and intravenous immunoglobulin therapy for 5 days and showed mild consecutive improvements each day of treatment. He was discharged after 22 days, and was encouraged to continue gluten adherence, physical and speech therapy, and follow up with neuroimmunology. This report demonstrates that autoimmune encephalitis due to anti-mGluR1antibodies and gluten ataxia are both immune-mediated disorders that should be considered in acute cerebellar ataxia cases. By broadening the differential diagnosis and a comprehensive CSF analysis, identification of gluten ataxia and autoimmune encephalitis were beneficial in the management of this particular patient.

[A case of autoimmune glial fibrillary acidic protein astrocytopathy with various symptoms such as optic disc edema and cerebellar ataxia].

A 59-year-old man had developed visual abnormality, nausea, headache, and weight loss since three months before. The ophthalmologist found severe optic disc edema in both eyes, and referred him to our hospital. The patient had mild cerebellar ataxia. Increased cerebrospinal fluid pressure, increased protein and cell counts, positive oligoclonal band, and contrast-enhanced head MRI showed multiple linear perivascular radial gadolinium enhancement around bilateral lateral ventricles. His subjective and objective findings significantly improved with steroid treatment. The cerebrospinal fluid was found to be positive for glial fibrillary acidic protein (GFAP) antibodies, and a diagnosis of GFAP astrocytopathy was obtained. When optic edema or radial contrast effects was observed on contrast-enhanced MRI, GFAP astrocytopathy should be considerd. Prompt immunotherapy is required to circumvent the development of permanent visual impairment.

Case report: Isolated brainstem-cerebellar symptoms in a patient with anti-NMDA receptor encephalitis.

Cerebellar ataxia is an uncommon and atypical manifestation of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, often accompanied by seizures, psychiatric symptoms, and cognitive deficits. Previous cases of isolated brainstem-cerebellar symptoms in patients with anti-NMDAR encephalitis have not been documented. This report presents a case of anti-NMDAR encephalitis in which the patient exhibited cerebellar ataxia, nystagmus, diplopia, positive bilateral pathological signs, and hemiparesthesia with no other accompanying symptoms or signs. The presence of positive CSF anti-NMDAR antibodies further supports the diagnosis. Other autoantibodies were excluded through the use of cell-based assays. Immunotherapy was subsequently administered, leading to a gradual recovery of the patient.

[A case of Holmes tremor in which 123I-IMP SPECT and MRI findings suggest damage to the cerebellothalamic tract and the dentato-rubro-olivary pathway].

A 75-year-old woman was referred to our department in October 2022 with ataxia and involuntary movements of the right upper and lower limbs. She had experienced a left pontine hemorrhage in March 2021, which was managed conservatively. However, she had residual right-sided hemiplegia. In addition, she had cerebellar ataxia and a 2 |Hz resting tremor of the right upper and lower limbs, which was enhanced while maintaining posture and contemplation. Based on her history, and the findings of MRI and nuclear medicine imaging, we diagnosed the patient with Holmes tremor due to pontine hemorrhage. Holmes tremor is a rare movement disorder secondary to brainstem and thalamic lesions, characterized by a unilateral low-frequency tremor. In this case, 123I-IMP SPECT and MRI shows damage to the cerebellothalamic tract and dentaro-rubro-olivary pathway.

[Blood-brain barrier breakdown and autoimmune cerebellar ataxia].

Autoimmune cerebellar ataxia is a disease entity that affects the cerebellum and is induced by autoimmune mechanisms. The disease is classified into several etiologies, including gluten ataxia, anti-glutamate decarboxylase (GAD) ataxia, paraneoplastic cerebellar degeneration, primary autoimmune cerebellar ataxia and postinfectious cerebellar ataxia. The autoimmune response in the periphery cross-reacts with similar antigens in the cerebellum due to molecular mimicry. Breakdown of the blood‒brain barrier (BBB) could potentially explain the vulnerability of the cerebellum during the development of autoimmune cerebellar ataxia, as it gives rise to the entry of pathogenic autoantibodies or lymphocytes into the cerebellum. In this review, the maintenance of the BBB under normal conditions and the molecular basis of BBB disruption under pathological conditions are highlighted. Next, the pathomechanism of BBB breakdown in each subtype of autoimmune cerebellar ataxia is discussed. We recently identified glucose-regulated protein (GRP) 78 antibodies in paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome, and GRP78 antibodies induced by cross-reactivity with tumors can disrupt the BBB and penetrate anti-P/Q type voltage-gated calcium channel (VGCC) antibodies into the cerebellum, thus leading to cerebellar ataxia in this disease.

Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico / Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico

COVID-19 es una enfermedad viral principalmente respiratoria y/o gastrointestinal. Las manifestaciones neurológicas tienen una frecuencia variable en pediatría. Presentamos un varón de 10 años de edad, previamente sano, que presentó una ataxia cerebelosa durante un cuadro agudo de COVID-19. El SARS-CoV-2 fue detectado por hisopado nasofaríngeo por antígeno y RPC. El LCR fue normal y el cultivo bacteriológico y estudio viral fueron negativos. La TC y RM encefálica fueron normales. No requirió tratamiento específico y tuvo una evolución favorable, con resolución completa de los síntomas neurológicos al mes. Debe considerarse la infección por SARS-CoV-2 como un diagnóstico diferencial entre las causas de ataxia cerebelosa aguda, según la situación epidemiológica.

COVID-19 is a disease that mainly produces respiratory and/or gastrointestinal symptoms. Neurological manifestations occur with a variable frequency in children. We present a previously healthy 10-year-old boy who presented acute cerebellar ataxia during an acute COVID-19. SARS-CoV-2 was detected in a nasopharyngeal sample by antigen and PCR. The CSF was normal, the bacteriological culture and the viral PCR were negative. CT of the brain and gadolinium MRI of the brain were normal. He did not require specific treatment and had a favorable evolution, with complete resolution of neurological symptoms at one month. SARS-CoV-2 infection should be considered as a differential diagnosis between the causes of acute cerebellar ataxia, according to the epidemiological situation.

Distonía mioclónica y ataxia cerebelosa en la autoinmunidad antiglutámico-descarboxilasa / Myoclonus-dystonia and cerebellar ataxia in association with anti-glutamic acid decarboxylase autoimmunity

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Ataxia por celiaquía / Celiac disease and cerebellar ataxia

INTRODUCCIÓN: En la enfermedad celíaca las manifestaciones extraintestinales, con ausencia de las intestinales clásicas, son cada vez más frecuentes. La ataxia por gluten es una manifestación frecuente en adultos con celiaquía, pero en pediatría se considera excepcional. CASO CLÍNICO: Presentamos un caso de un niño de 11 años con ataxia progresiva de difícil diagnóstico, con marcadores serológicos de celiaquía prácticamente normales y con diagnóstico por biopsia intestinal, y con respuesta positiva a inmunoglobulinas intravenosas y dieta libre de gluten. CONCLUSIÓN: Puede resultar recomendable en pacientes con ataxia cerebelosa realizar un tipado de HLA junto a valoración de serología de celiaquía, y en caso de sospecha realizar panendoscopia digestiva oral

INTRODUCTION: Extraintestinal manifestations in the celiac disease, in absence of the classic intestinal ones, are increasingly frequent. Gluten ataxia is a frequent manifestation in adults with celiac disease. It is, nonetheless, considered exceptional in pediatrics. CASE REPORT: We present a case of an 11-year-old boy with progressive ataxia difficult to diagnose, with practically normal serologic markers of celiac disease, diagnosed by intestinal biopsy and with a positive response to intravenous immunoglobulins and a gluten-free diet. CONCLUSION: It may be advisable in patients with cerebellar ataxia to perform an HLA typing along with an assessment of celiac disease serology, and in case of suspicion of performing oral digestive panendoscopy

Síndrome comisural de Wernekink secundario a un ictus de la unión mesencéfalo-protuberancial / Wernekinks commissural syndrome due to a stroke of the midbrain-pons union

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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)

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.

Cerebellar ataxia as presenting feature of hypothyroidism

SUMMARY Symptoms and signs of the hypothyroidism vary in relation to the magnitude and acuteness of the thyroid hormone deficiency. The usual clinical features are constipation, fatigue, cold intolerance and weight gain. Rarely it can present with neurologic problems like reversible cerebellar ataxia, dementia, peripheral neuropathy, psychosis and coma. Hypothyroidism should be suspected in all cases of ataxia, as it is easily treatable. A 40 year-old male presented with the history facial puffiness, hoarseness of voice and gait-ataxia. Investigations revealed frank primary hypothyroidism. Anti-TPO antibody was positive. Thyroxine was started and patient improved completely within eight weeks. Hypothyroidism can present with ataxia as presenting feature. Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia.

Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition / Ataxias cerebelares não-progressivas e lesão cerebelar aguda prévia indeterminada: uma condição clínica misteriosa

Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-onset acute to subacute appendicular and truncal cerebellar ataxia with mild to moderate cerebellar or olivopontocerebellar atrophy. Establishing the etiology of the acute triggering events of such ataxias is complex. Non-progressive ataxia in adults must be distinguished from hereditary ataxias.

Ataxias cerebelares representam um grupo amplo de doenças neurológicas secundárias a disfunções cerebelares ou das vias associadas, raramente cursando com etiologias adquiridas de início agudo e com evolução crônica não-progressiva. Nós avaliamos pacientes com ataxia cerebelar adquirida não-progressiva com apresentação prévia aguda ou subaguda. Foi realizada caracterização clínica e de neuroimagem de pacientes adultos com ataxia adquirida não-progressiva. Cinco pacientes foram identificados com o fenótipo clínico de ataxia adquirida não-progressiva. A maior parte dos pacientes apresentou início juvenil ou no adulto, de forma aguda ou subaguda, de ataxia cerebelar appendicular e de tronco com atrofia cerebelar ou olivopontocerebelar leve a moderada. Estabelecer a etiologia dos eventos agudos desencadeantes de tais ataxias é complexo. Ataxia não-progressiva em adultos deve ser diferenciada das ataxias hereditárias.

Siderosis superficial difusa del sistema nervioso central: descripción de cuatro casos y revisión de la bibliografía / Diffuse superficial siderosis of the central nervous system: four case reports and review of the literature

Introducción. La siderosis superficial difusa del sistema nervioso central (SNC) es una rara condición debida a depósitos de hemosiderina en las capas subpiales del cerebro y la médula espinal. La fuente de sangrado crónico o recurrente en el espacio subaracnoideo se detecta sólo en un 50% de los casos. Los síntomas más característicos son ataxia cerebelosa e hipoacusia neurosensorial. Las secuencias eco de gradiente potenciadas en T2 de resonancia magnética constituyen el método diagnóstico de elección.Casos clínicos. Presentamos cuatro pacientes con siderosis superficial difusa del SNC relacionada con angiopatía amiloide, anticoagulación oral, schwannoma del VIII par craneal y sin fuente de sangrado conocida en un caso. Dos pacientes desarrollaron ataxia cerebelosa; tres de ellos, episodios recurrentes de alteración focal neurológica; uno, demencia; y el cuarto es un hallazgo radiológico. No se objetivó progresión clínica durante el seguimiento (2-11 años) en tres de ellos. El paciente con angiopatía amiloide evolucionó a demencia. Conclusiones. Los episodios recurrentes de alteración focal neurológica son los síntomas más frecuentes en nuestros casos de siderosis superficial difusa del SNC. La evolución natural de esta condición no se conoce bien y puede constituir un hallazgo radiológico (AU)

Introduction. Diffuse superficial siderosis of the central nervous system (CNS) is a rare condition due to hemosiderin deposits in the subpial layers of the brain and spinal cord. The source of chronic or recurrent bleeding into the subarachnoid space is detected in only 50 % of cases. The most characteristic symptoms are cerebellar ataxia and sensorineural hearing impairment. T2-weighted gradient echo magnetic resonance imaging constitutes the diagnostic method of choice. Case reports. We report four patients of diffuse superficial siderosis of the CNS associated to cerebral amyloid angiopathy, oral anticoagulation, schwannoma VIII, and without known source of bleeding in one case. Two patients developed cerebellar ataxia, three of them present transient focal neurological episodes, one dementia and, the last one, the diffuse superficial siderosis of the CNS is a radiological finding. No clinical progression was observed during follow-up (2-11 years) in three of them. The patient with cerebral amyloid angiopathy progresses to dementia. Conclusions. Transient focal neurological episodes were the most common symptom in our cases of diffuse superficial siderosis of the CNS. The natural history of this condition is not very known and may be regarded as a radiological finding (AU)

Neurological complications after H1N1 influenza vaccination: magnetic resonance imaging findings / Complicações neurológicas após vacinação para H1N1: achados de ressonância magnética.

Objective: To report 4 different neurological complications of H1N1 virus vaccination. Method: Four patients (9, 16, 37 and 69 years of age) had neurological symptoms (intracranial hypertension, ataxia, left peripheral facial palsy of abrupt onset, altered mental status, myelitis) starting 4-15 days after H1N1 vaccination. MRI was obtained during the acute period. Results: One patient with high T2 signal in the cerebellum interpreted as acute cerebellitis; another, with left facial palsy, showed contrast enhancement within both internal auditory canals was present, however it was more important in the right side; one patient showed gyriform hyperintensities on FLAIR with sulcal effacement in the right fronto-parietal region; and the last one showed findings compatible with thoracic myelitis. Conclusion: H1N1 vaccination can result in important neurological complications probably secondary to post-vaccination inflammation. MRI detected abnormalities in all patients. .

Objetivo: Relatar quatro diferentes complicações neurológicas da vacina contra o vírus H1N1. Método: Quatro pacientes (9, 16, 37 e 69 anos) tinham sintomas neurológicos (hipertensão intracraniana, ataxia, paralisia facial esquerda de inicio abrupto, estado mental alterado e mielite) iniciando-se 4 a 15 dias após vacinação contra H1N1. RM foi realizada em quatro pacientes na fase aguda e em um paciente na fase crônica. Resultados: Dos quatro pacientes, um apresentou hipersinal em T2 no cerebelo, interpretado como cerebelite aguda; um, com paralisia facial esquerda, tinha realce dos condutos auditivos internos, maior à direita; um tinha hipersinal em T2 no cortex parieto-occipital direito; um apresentou sinais compatíveis com mielite torácica. Conclusão: A vacinação contra o H1N1 pode resultar em importantes complicações neurológicas, provavelmente secundárias a inflamação pós-vacinal. A RM detectou anormalidades em todos os pacientes. .

Adult onset sporadic ataxias: a diagnostic challenge / Ataxias esporadicas de inicio no adulto: um desafio diagnostico

Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.

Pacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.