Results 21 to 30 of about 341,259 (167)

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

Successful treatment of psychosis in dentatorubral‐pallidoluysian atrophy with quetiapine: A case report

Neuropsychopharmacology Reports, 2018
Introduction Patients with dentatorubral‐pallidoluysian atrophy (DRPLA) sometimes elicit psychosis. First‐generation antipsychotic drugs have been reported to be effective in treating psychotic symptoms associated with the disease.
Zui Narita, Tomiki Sumiyoshi
doaj   +1 more source

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Arquivos de Neuro-Psiquiatria
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior   +7 more
doaj   +1 more source

Gait rhythm analysis as a new continuous scale for cerebellar ataxia: Power law and lognormal components represent the ataxic gait quantity

Neuroscience Research
We estimated the severity of cerebellar ataxia by analyzing gait rhythm. We measured the step times in patients with pure cerebellar ataxia and healthy controls and then analyzed the distribution of the ratios of adjacent times. Gait rhythm displayed the
Ryoji Goto, Koichiro Oba, Kyota Bando, Kyoko Todoroki, Junichiro Yoshida, Daisuke Nishida, Katsuhiro Mizuno, Hidehiro Mizusawa, Yuji Takahashi   +8 more
doaj   +1 more source