Results 71 to 80 of about 221,497 (291)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

MicroRNAs Dysregulation and Metabolism in Multiple System Atrophy

open access: yesFrontiers in Neuroscience, 2019
Multiple system atrophy (MSA) is an adult onset, fatal disease, characterized by an accumulation of alpha-synuclein (α-syn) in oligodendroglial cells.
Chunchen Xiang   +3 more
doaj   +1 more source

Models of Multiple System Atrophy [PDF]

open access: yes, 2013
Multiple system atrophy (MSA) is a predominantly sporadic, adult-onset, fatal neurodegenerative disease of unknown etiology. MSA is characterized by autonomic failure, levodopa-unresponsive parkinsonism, cerebellar ataxia and pyramidal signs in any combination. MSA belongs to a group of neurodegenerative disorders termed α-synucleinopathies, which also
Lisa, Fellner   +2 more
openaire   +2 more sources

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito   +14 more
wiley   +1 more source

Multiple System Atrophy

open access: yes, 2017
Multiple system atrophy is a group of diseases characterized by parkinsonism, ataxia, and dysautonomia. Although the etiology remains unclear, the molecular pathology has been somewhat clarified.
Ejaz A. Shamim, Melvin W. Kong
core   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel   +8 more
wiley   +1 more source

Attentional functions in multiple system atrophy and Parkinson's disease

open access: yes, 1996
Objective-To assess cognitive performances of patients with striatonigral degeneration type multiple system atrophy compared with those of patients with Parkinson's disease.
GASPARINI, Marina   +2 more
core   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang   +10 more
wiley   +1 more source

Treatment of multiple system atrophy using intravenous immunoglobulin

open access: yesBMC Neurology, 2012
Background Multiple system atrophy (MSA) is a progressive neurodegenerative disorder of unknown etiology, manifesting as combination of parkinsonism, cerebellar syndrome and dysautonomia. Disease-modifying therapies are unavailable.
Novak Peter   +5 more
doaj   +1 more source

Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]

open access: yes, 2013
Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core  

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