Genotype-phenotype relations for the isolated Dystonia Genes TOR1A, THAP1, GNAL, ANO3, KMT2B, PRKRA and HPCA: MDSGene Systematic Review
Objective: To systematically review genotypes and phenotypes of monogenic isolated dystonia. Background: The Movement Disorder Society Genetic mutation database (MDSGene at www.mdsgene.org) provides an overview…Is primary writing tremor a form fruste of dystonia?
Objective: To investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology and clarify if they are different phenomenological expressions of the same…Bilateral Globus pallidus interna Deep Brain Stimulation in Cranio-Cervical Dystonia (Meige syndrome) patient in Hong Kong
Objective: To report the first cranio- cervical dystonia (Meige syndrome) patient who received Deep Brain Stimulation (DBS) implant in Hong Kong. Background: Meige syndrome is…A novel heterozygous ANO3 mutation responsible for myoclonus-dystonia
Objective: We present a family carrying ANO3 mutation and exhibiting a myoclonus-dystonia and tremor phenotype. Background: Mutations of Anoctamine 3 gene (ANO3) are a rare…Pediatric Deep Brain Stimulation in Secondary Dystonia using Stereotactic Depth Electrode Targeting
Objective: The primary objective of our pediatric clinical research is to improve outcomes after deep brain stimulation for pediatric patients with secondary dystonia. We apply…GPi DBS does not affect sensory thresholds in hereditary/idiopathic dystonia
Objective: Despite the widespread use of DBS for dystonia, little is known about its effects on non-motor symptoms such as dystonia-related pain. Here we provide…Combined Botulinum Toxin and Gpi DBS therapy in intractable cervical dystonia
Objective: To test whether the reintroduction of Botulinum Toxin Injections (BTI) after Globus pallidus interna Deep Brain Stimulation (Gpi-DBS) for intractable cervical dystonia synergistically improves…Two Patients with Dopamine Transporter Deficiency Treated with Deep Brain Stimulation
Objective: Dopamine transporter deficiency syndrome (DTDS,) a rare disease characterized by infantile –onset progressive dystonia, has no established treatment guidelines. Treatment is generally predicated on…The effect of Kinesio Taping therapy on Cervical Dystonia
Objective: To test the efficacy of kinesio taping treatment as an adjunct therapy to botulinum toxin in the treatment of cervical dystonia. Background: Botulinum toxin…Altered sensory processing in somatosensory and auditory domains in laryngeal dystonia
Objective: To delineate correlates of altered sensory processing in laryngeal dystonia (LD) in both presence and absence of somatosensory input and their modulation by botulinum…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.