Results 71 to 80 of about 59,501 (281)
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Assessing the digit organisation of focal hand dystonia using 7T functional MRI
DystoniaIntroductionFocal hand dystonia (FHD) is typically treated with Botulinum Toxin (BTX/BoNT-A/Botox/Onabotulinum Toxin Type A) injected into digit and wrist muscles to provide temporary symptomatic relief from muscle spasm.
Michael Asghar +12 more
doaj +1 more source
Acute and Chronic Local Field Potential Recordings in Dystonia-A Systematic Review. [PDF]
Mov Disord Clin PractAbstract Dystonia is a hyperkinetic movement disorder increasingly conceptualized as a disorder of distributed network dysfunction involving the basal ganglia, cortex and cerebellum. Local field potentials (LFPs) recorded from deep brain stimulation (DBS) electrodes provide a unique opportunity to characterize the electrophysiological signatures ...
Horan J +6 more
europepmc +2 more sources
The Neurophysiology of Dystonia [PDF]
Archives of Neurology, 1998 Any model for the physiology of dystonia must be able to explain how dystonia can be produced in various circumstances. Brain lesions can cause dystonia; responsible sites include the basal ganglia, brainstem, and thalamus, but the most common site is the putamen.
openaire +2 more sources
, 2015 Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures.
Mark S. LeDoux, LeDoux, Mark S.
core +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Frontiers in Neurology, 2014 Because of its unique ability to exert long-lasting synaptic transmission blockade, botulinum neurotoxin A (BoNT/A) is used to treat a wide variety of disorders involving peripheral nerve terminal hyperexcitability.
Hidetaka eKoizumi +11 more
doaj +1 more source
Should Paratonia Be Considered a Movement Disorder? Implications for Clinical Management. [PDF]
Mov Disord Clin PractAbstract Paratonia is an involuntary and variable resistance to passive movement that emerges with cognitive decline in dementias of different etiologies, with prevalence approaching 90% to 100% in end‐stage disease. It is common in Parkinson disease and the atypical parkinsonisms.
Kleiner G, Ganos C, Lang AE.
europepmc +2 more sources
Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia
, 2023 Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness ...
V VSR K Prasad +6 more
core +1 more source