Exteroceptive Reflexes in Stiff Person Syndrome, Other Neurological Conditions and Healthy Controls
Abstract Background Stiff person syndrome (SPS) is a rare disabling neurological condition with overlapping symptomatology with more common neurological conditions. Exaggerated exteroceptive reflex mechanisms are thought to play a role in its pathophysiology.
Belinda Cruse +8 more
wiley +1 more source
Video-EEG/polygraphy in status epilepticus. [PDF]
d'Orsi G +3 more
europepmc +1 more source
Machine learning models for the prediction of levodopa response to tremor in Parkinson's disease. [PDF]
Li F +7 more
europepmc +1 more source
Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano +33 more
wiley +1 more source
<i>KCNC1</i>-Related Progressive Myoclonus Epilepsy: A Case Report. [PDF]
Salari M, Sadeghzadeh S, Etemadifar M.
europepmc +1 more source
A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson +43 more
wiley +1 more source
Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report. [PDF]
Dusek J +5 more
europepmc +1 more source
Kinematic Features of Voluntary and Involuntary Head Movements in Cervical Dystonia
Abstract Background Cervical dystonia (CD) has a varied motor presentation, combining abnormal postures with complex involuntary head movements. Classification of these motor patterns remains imprecise, relying on descriptive terminology without robust definitions. Objectives To provide a kinematically‐grounded description of the motor phenomenology of
Thomas Hart +6 more
wiley +1 more source
Ictal body turning and version in generalized epilepsy. [PDF]
Nagabushana D +3 more
europepmc +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

