Results 101 to 110 of about 71,064 (224)
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
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
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
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
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 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
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
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
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
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Choline chloride in the treatment of cerebellar and spinocerebellar ataxia
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
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