Results 51 to 60 of about 11,829 (290)

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Therapy of episodic ataxias: case report and review of the literature

, 2019
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal ...
Marco Vista, Monica Mazzoni, Laura Maria Raglione, Daniele Orsucci   +3 more
core   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2

Revista Habanera de Ciencias Médicas, 2021
Introducción: La Ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa y hereditaria. No se ha realizado ningún estudio para la caracterización de la ingesta nutricional en pacientes cubanos con SCA2.
Yasnay Jorge Saínz, Dennis Almaguer Gotay, Annelié Rodríguez Estupiñán, Luis Enrique Almaguer Mederos   +3 more
doaj  

SnapShot: Biology of Genetic Ataxias

, 2018
Genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. This SnapShot shows that the vast majority of established monogenic causes of dominant and recessive ataxias can be captured by a limited
Warrenburg, B.P.C. van de, Eidhof, I.J.M., Schenck, A.   +2 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

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

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 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