Results 41 to 50 of about 9,050 (259)

Ataxias cerebelosas hereditarias: principales avances neurofisiológicos, clínicos y genéticos

Correo Científico Médico, 2019
El término ataxias cerebelosas hereditarias comprende un amplio espectro de trastornos neurológicos en los cuales la ataxia es el síntoma principal. Conforman un complejo grupo de entidades cuyo reconocimiento es esencial para el correcto asesoramiento ...
Jorge Michel Rodríguez Pupo, Enriqueta Núñez Arias, Yesenia Rojas Rodríguez, Yolaine Aguilera Sánchez, Myrurgia Amieiro Paz   +4 more
doaj   +2 more sources

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Genes modificadores en enfermedades poliglutamínicas.

Revista Habanera de Ciencias Médicas, 2008
Las enfermedades poliglutamínicas constituyen un grupo creciente de enfermedades neurodegenerativas humanas, causadas por la expansión de secuencias repetitivas de CAG que son traducidas para dar lugar a proteínas con dominios poliglutamínicos expandidos.
Luis Enrique Almaguer Mederos, Yanetza González Zaldivar, Dennis Almaguer Gotay, José Miguel Laffita Mesa, Dany Coello Almarales   +4 more
doaj  

Potencial uso terapéutico del ARN de interferencia contra la COVID-19

Revista Habanera de Ciencias Médicas, 2020
Introducción: El SARS-CoV-2 es el agente causal de la COVID-19, enfermedad respiratoria que ha causado miles de víctimas fatales a escala global, y para la cual no existe ninguna terapia curativa efectiva.
Dany A. Cuello-Almarales, Luis Enrique Almaguer Mederos, Dennis Almaguer-Gotay   +2 more
doaj  

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

Arquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
José Luiz Pedroso, Pedro Braga-Neto, Irapuá Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Cardiovascular Risk Prediction and Periodontitis in Patients with Acute Coronary Syndrome, Holguín 2020

Revista Cubana de Estomatología, 2023
Introduction: Prediction of cardiovascular risk favors prevention of cardiovascular events. Objective: To estimate cardiovascular risk and determine the periodontal condition of patients with acute coronary syndrome.
Maricelys Leonor Martínez Pérez, Jacqueline Medrano Montero, Luis Enrique Almaguer Mederos   +2 more
doaj  

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source