Results 1 to 10 of about 2,684 (177)

Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis [PDF]

Frontiers in Neurology
PurposeMyoclonus—sudden, brief, involuntary muscle jerks—is a frequent and diagnostically challenging feature across neurodegenerative disorders. Unlike epileptic myoclonus, these manifestations rarely involve seizures; they often reflect extensive ...
Giuseppe d’Orsi, Maria Teresa Di Claudio, Assunta Anna Soccio, Valentina Palumbo, Carmela Pia Ferro, Umberto Costantino, Raffaella Latino, Danilo Fogli   +7 more
doaj   +5 more sources

Phenotypic and genetic aspects of hereditary ataxia in dogs [PDF]

Journal of Veterinary Internal Medicine, 2023
Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome.
Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F.M. Bhatti   +6 more
doaj   +2 more sources

Effects of Intensive Exercise on Cognitive Dysfunction in Patients With Pure Cerebellar Degeneration: A Single-Arm Pilot Study [PDF]

Annals of Rehabilitation Medicine, 2022
Objective To clarify the profile of cognitive dysfunction and the effects of intensive exercise in spinocerebellar degeneration (SCD). Methods We enrolled 60 healthy controls and 16 patients with purely cerebellar type SCD without gait disturbance or ...
Toshiya Shimamoto, Katsuhisa Uchino, Akira Mori, Kengo Nojima, Junichi Iiyama, Yohei Misumi, Mitsuharu Ueda, Makoto Uchino   +7 more
doaj   +1 more source

Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studies

Cells, 2023
Introduction: Hereditary cerebellar ataxias (HCAs) are a heterogenous group of neurodegenerative disorders associated with severe disability. Treatment options are limited and overall restricted to symptomatic approaches, leading to poor prognoses.
Carolina Santos, Sofia Malheiro, Manuel Correia, Joana Damásio   +3 more
doaj   +1 more source

Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report [PDF]

Iranian Journal of Medical Sciences, 2019
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified.
Ehsan Moghanloo, Ziba Morovvati, Maghsoud Seifi, Fatemeh Minoochehr, Saeid Morovvati, Shahram Teimourian   +5 more
doaj   +1 more source

Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic Ataxia

International Archives of Otorhinolaryngology, 2020
Introduction Spinocerebellar ataxia (SCA) is part of a genetic and clinical heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia.
Bianca Simone Zeigelboim, Anylize Wachholz Vom Scheidt, Kairone Fernandes Kronbauer, Paulo Breno Noronha Liberalesso, Maria Renata José, Vinicius Ribas Fonseca, Hélio Afonso Ghizoni Teive   +6 more
doaj   +1 more source

Frontal ataxia: historical aspects and clinical definition

Arquivos de Neuro-Psiquiatria, 2023
Frontal ataxia, originally described by Bruns, is characterized by the presence of signs of frontal lobe dysfunction, such as perseveration, paratonia, frontal release signs, cognitive changes, and urinary difficulty, associated with imbalance, slow gait,
Patrícia Áurea Andreucci Martins Bonilha, Beatriz Cassarotti, Thabata Emanuelle Martins Nunes, Hélio Afonso Ghizoni Teive   +3 more
doaj   +1 more source

Ataxia telangiectasia: A diagnostic challenge. Case report

Case Reports, 2020
Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene.
Natalia Martínez-Córdoba, Eugenia Espinosa-García   +1 more
doaj   +1 more source

A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia. [PDF]

PLoS ONE, 2014
Spinocerebellar degenerations (SCDs) are a large class of sporadic or hereditary neurodegenerative disorders characterized by progressive motion defects and degenerative changes in the cerebellum and other parts of the CNS.
Yuka Miyoshi, Yoshichika Yoshioka, Kinuko Suzuki, Taisuke Miyazaki, Minako Koura, Kazumasa Saigoh, Naoko Kajimura, Yoko Monobe, Susumu Kusunoki, Junichiro Matsuda, Masahiko Watanabe, Naoto Hayasaka   +11 more
doaj   +1 more source

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

International Archives of Otorhinolaryngology, 2017
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive   +6 more
doaj   +1 more source