Results 61 to 70 of about 12,825 (214)

Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia

Neurología (English Edition)
Hereditary ataxia (HA) and hereditary spastic paraplegia (HSP) are rare diseases; as such, they are rarely managed in general neurology consultations. We present a set of brief, practical recommendations for the diagnosis and management of these patients,
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

Enfermedad periodontal y factores de riesgo aterotrombótico en pacientes con síndrome coronario agudo

Correo Científico Médico, 2020
Introducción: Numerosas investigaciones fundamentan la relación entre enfermedad periodontal y enfermedades cardiovasculares de origen isquémico. Objetivo: Evaluar la asociación de la enfermedad periodontal y factores de riesgo aterotrombóticos en ...
Maricelys Leonor Martínez Pérez, Luis Enrique Almaguer Mederos, Jacqueline Medrano Montero, Daynellis Frómeta Delgado, Aleannis Cané Rodríguez   +4 more
doaj   +2 more sources

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

Neurología
Resumen: Las ataxias hereditarias (AH) y paraparesias espásticas hereditarias son enfermedades raras, poco frecuentes en las consultas del neurólogo general.
F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpe, A.D. Adarmes Gómez, C. Serrano Munuera   +4 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Exploring neuropsychiatric symptoms in Friedreich ataxia

Scientific Reports
Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is
Simona Karamazovova, Lucie Stovickova, Dylan J. Jester, Veronika Matuskova, Jaroslava Paulasova-Schwabova, Michaela Kuzmiak, Alena Zumrova, Ross Andel, Martin Vyhnalek   +8 more
doaj   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Evaluación del efecto del Compvit-B sobre la neuropatía periférica en pacientes con SCA2 en estadio ligero de la enfermedad

Revista Cubana de Investigaciones Biomédicas
Introducción: la Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa severa que representa un serio problema de salud en Cuba, debido a las altas tasas de prevalencia e incidencia y a la ausencia de tratamientos curativos. Objetivos:
Luis Velázquez-Pérez, Olivia Teresa González Gay, Roberto Rodríguez-Labrada, Jorge A Bergado Rosado, Raul Aguilera Rodríguez, Nalia Canales Ochoa, Yenisey Coira Moreno, Yoenis Figueredo, Jacqueline Medrano Montero, Yaimeé Vázquez Mojena, José Miguel Laffita Mesa   +10 more
doaj  

Ataxias Dominantes

, 1987
1.1 REVISÃO DA LITERATURA Foram analisados os dados da informação clínica relativos a 544 doentes pertencentes a 173 famílias publicados na literatura, permitindo-nos salientar o seu polimorfismo por um lado e uma certa uniformidade nas variações
Gonçalves, António Freire
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