Results 111 to 120 of about 304,235 (279)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow   +6 more
wiley   +1 more source

The non-motor symptoms questionnaire and non-motor symptoms scale for use in Sweden

open access: yes, 2017
Objective: To translate the Non-Motor Symptoms Questionnaire (NMSQ) and the Non-Motor Symptoms Scale (NMSS) into Swedish, and test their linguistic validity and user-friendliness. Background: Non-motor symptoms (NMS) are common but under recognized among people with Parkinson’sdisease (PwPD).
Hagell, Peter   +3 more
openaire   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey   +2 more
wiley   +1 more source

Basilar Artery Occlusion Stroke Managed With Tenecteplase Versus Alteplase Before Endovascular Treatment (BAO‐TNK)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the effectiveness and safety of tenecteplase (TNK) versus alteplase (TPA) in patients with basilar artery occlusion prior to endovascular treatment (EVT). Methods In this retrospective multicenter study (BAO‐TNK), we analyzed consecutive BAO patients from 14 U.S.
Rahul R. Karamchandani   +38 more
wiley   +1 more source

Network Localization of Fatigue in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo   +12 more
wiley   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu   +5 more
wiley   +1 more source

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks   +10 more
wiley   +1 more source

Mind–Body Exercises for Non-motor Symptoms of Patients With Parkinson’s Disease: A Systematic Review and Meta-Analysis [PDF]

open access: gold, 2021
Kai Wang   +10 more
openalex   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake   +12 more
wiley   +1 more source

Obstructive Sleep Apnea and Other Vascular Risk factors' Impact on Non‐Motor Symptoms in Parkinson's Disease [PDF]

open access: bronze, 2022
Bruna Meira   +10 more
openalex   +1 more source

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