Results 101 to 110 of about 71,064 (224)

Inhibition of Cerebellar Dentate Nucleus‐Zona Incerta Glutamatergic Circuit Improves Sleep Disturbances in Chronic Temporal Lobe Epilepsy Model

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 10, October 2026.
Mice with TLE exhibit significant sleep fragmentation and reduced sleep duration, particularly during non‐rapid eye movement sleep. By employing optogenetic and chemogenetic methods to target CDN glutamatergic neurons, we observed a decrease in sleep fragmentation, an increase in overall sleep duration, and an enhancement in sleep quality among TLE ...
Liang Xia   +6 more
wiley   +1 more source

A family clinical case of combination of two mendelial diseases: spinocerebellar ataxia type 1 and hypophosphatemic ricketis

open access: yesЯкутский медицинский журнал
The combination of two genetic syndromes in a single patient is a rare occurrence. This article describes a clinical case of a rare combination of two Mendelian diseases: spinocerebellar ataxia type I (SCA 1) and hypophosphatemic rickets in a single ...
M. A. Varlamova   +2 more
doaj   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

open access: yesMovement Disorders, Volume 41, Issue 10, Page 2564-2591, October 2026.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska   +6 more
wiley   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

open access: yesMovement Disorders, Volume 41, Issue 10, Page 2745-2754, October 2026.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang   +13 more
wiley   +1 more source

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

open access: yesInternational 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   +6 more
doaj   +1 more source

A Data‐Driven Operational Definition of Square‐Wave Jerks and Its Diagnostic Utility in Progressive Supranuclear Palsy

open access: yesEuropean Journal of Neurology, Volume 33, Issue 10, October 2026.
A data‐driven definition of square‐wave jerks (SWJ) was developed using nested cross‐validation in 180 participants and applied unchanged to an independent cohort of 91 participants. SWJ rate was higher in progressive supranuclear palsy (PSP), whereas SWJ morphology did not distinguish diagnostic groups.
Duy Duan Nguyen   +9 more
wiley   +1 more source

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia

open access: yesTremor and Other Hyperkinetic Movements, 2018
Background: Myoclonus and tremor are common movement disorder phenomenologies in steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). Pure ataxia without encephalopathy has rarely been reported.
Pichet Termsarasab   +3 more
doaj   +1 more source

Synaptic Proteostasis in Health and Disease

open access: yesJournal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

Spinocerebellar Ataxia Type 7: A Case Series and Review

open access: yes, 2018
This report describes a series of 10 cases of spinocerebellar ataxia type 7 from the same ...
DonRaphael P. Wynn; Judith Warner; Bradley Katz; Alison Crum; Kathleen Digre
core  

Choline chloride in the treatment of cerebellar and spinocerebellar ataxia

open access: yes, 1981
The use of orally administered choline chloride in the treatment of cerebellar and spinocerebellar ataxia was investigated by a short-term double-blind crossover trial in 20 patients with ataxia. These patients, who included 7 with Friedreich's ataxia, 7
Mastaglia, F.L.   +3 more
core  

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