Results 71 to 80 of about 5,461 (178)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer   +15 more
wiley   +1 more source

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer   +27 more
wiley   +1 more source

Focal hand dystonia - a disorder of neuroplasticity? [PDF]

open access: yesBrain, 2003
The term dystonia collectively refers to a heterogeneous group of movement disorders characterized by sustained involuntary muscle contractions that result from co‐contracting antagonistic muscles and overflow into extraneous muscles (Hallett, 1998). Like other types of focal dystonias, writer’s cramp develops in the absence of known structural changes
openaire   +1 more source

Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

open access: yesArquivos de Neuro-Psiquiatria, 2008
BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism.
Clecio Godeiro-Junior   +6 more
doaj   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe   +6 more
wiley   +1 more source

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Variability of motor imagery performance in children with cerebral palsy. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the two groups. Method In this cross‐sectional case–control study, 37 participants
Inbar Breuer Asher   +3 more
wiley   +1 more source

Loss of topographic specificity of LTD-like plasticity is a trait marker in focal dystonia

open access: yesNeurobiology of Disease, 2011
In focal hand dystonia, long-term potentiation (LTP) and depression (LTD)-like neuronal plasticity, as assessed by paired associative stimulation (PAS) targeting the hand-associated motor cortex, is enhanced and the topographic organization of plasticity
David Weise   +4 more
doaj   +1 more source

Phenotypic characteristics of paroxysmal dyskinesia in 25 cats

open access: yesJournal of Small Animal Practice, EarlyView.
Objectives Paroxysmal dyskinesia has, to date, been reported only systematically in Sphynx cats. This study aims to describe paroxysmal dyskinesia in additional breeds. Materials and Methods The medical records of cats from multiple hospitals presenting with episodes consistent with paroxysmal dyskinesia between 2020 and 2025 were retrospectively ...
T. Liatis   +5 more
wiley   +1 more source

Paciente con postura anómala en la mano derecha

open access: yesGalicia Clínica, 2012
RESUMEN: La distonía es uno de los trastornos más frecuentes del movimiento y puede afectar a cualquier área corporal. Las más frecuentes aparecen durante la edad adulta y son las focales y las segmentarias.
Laura González Vázquez   +3 more
doaj   +1 more source

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