AIDS-related progressive multifocal leukoencephalopathy in a patient presenting with cerebellar ataxia
Rev. Soc. Bras. Med. Trop; 54 (), 2021
Results: 8
Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
Arq. neuropsiquiatr; 78 (9), 2020
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 expan...
Ataxias cerebelosas e infecciones virales: caracterización clínica y mecanismos neuropatogénicos
Cerebellar ataxias and viral infections: clinical characterization and neuropathogenic mechanisms
Rev. cuba. med. trop; 72 (1), 2020
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, esp...
Acute cerebellar ataxia: differential diagnosis and clinical approach
Arq. neuropsiquiatr; 77 (3), 2019
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 cere...
Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies
Arq. neuropsiquiatr; 75 (3), 2017
ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia ass...
Autoanticuerpos/sangre, Ataxia Cerebelosa/complicaciones, Ataxia Cerebelosa/diagnóstico, Ataxia Cerebelosa/tratamiento farmacológico, Ataxia Cerebelosa/inmunología, Glutamato Descarboxilasa/sangre, Glutamato Descarboxilasa/inmunología, Inmunoglobulinas Intravenosas/uso terapéutico, Imagen por Resonancia Magnética, Estudios Retrospectivos, Resultado del Tratamiento
Ataxia, ophthalmoplegia and laryngeal stridor related to glutamic acid decarboxylase antibodies
Rev. bras. neurol; 51 (2), 2015
Glutamic acid decarboxylase (GAD) is the enzyme responsible for the conversion of glutamate to gamma-aminobutyric acid (GABA) in the central nervous system. The presence of anti-GAD antibody in cerebrospinal fluid and high levels in blood have been described in some neurological disorders, such as stiff ...
Ataxia cerebelar idiopática de início tardio (ILOCA): um desafio diagnóstico
Rev. bras. neurol; 51 (1), 2015
O diagnóstico diferencial das ataxias é complexo e a determinação etiológica um desafio. Quando se inicia após os 50 anos de idade, mesmo após extensa investigação, eventualmente não se estabelece a etiologia, podendo tratar-se de ataxia cerebelar idiopática de início tardio (ILOCA), uma das ...