Results 51 to 60 of about 6,068 (173)
International Journal of Yoga, 2022 Spinocerebellar ataxias (SCAs) comprise a large heterogeneous group of autosomal dominant cerebellar ataxias. Despite availability of various conventional treatments, reducing disability and improving the quality of life is a challenge in this condition.
Kavyashree Kulamarva +5 more
doaj +1 more source
Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025
Movement Disorders, EarlyView.Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova +5 more
wiley +1 more source
Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort
Movement Disorders, EarlyView.Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source
Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review
Movement Disorders, EarlyView.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
Informática y Sistemas, 2017 The analysis of eye movements is an useful tool to evaluate various neurological disfunctions, among them is the Spinocerebellar Ataxia Type 2 (SCA2).
Roberto A. Becerra García +2 more
doaj +1 more source
Movement Disorders, EarlyView.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
Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells
Movement Disorders, EarlyView.Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia +4 more
wiley +1 more source
Professor Wadia’s contributions to neurology and spinocerebellar ataxia type 2
Arquivos de Neuro-PsiquiatriaThe authors present a historical review of the seminal contributions of Professor N. H. Wadia (1925-2016) to neurology, in particular, the first description of spinocerebellar ataxia type 2.
Fernando Spina Tensini +3 more
doaj +1 more source
The FEBS Journal, EarlyView.Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley +1 more source
Stimulating proteasomal degradation in human proteinopathies
The FEBS Journal, EarlyView.The proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Maria E. Gierisch +2 more
wiley +1 more source