A software framework for objective and quantitative audio-analysis of Embouchure Dystonia (ED)
Objective: Development of an automated audio-analysis software framework for aiding in biomarker identification to objectively quantify ED severity. Background: ED, the second most common phenotype…Nigrostriatal degeneration in DYT-PRKRA: new insights on a rare disorder
Objective: To describe a genetically proven DYT-PRKRA (DYT16) case with documented loss of presynaptic dopamine transporters. Background: DYT-PRKRA is an autosomal recessive disorder combining generalized…A protocol to probe the mechanisms underlying disordered sub-cortical processing in cervical dystonia using emotional faces.
Objective: Probing the mechanisms underlying disordered sub-cortical processing in the pathogenesis of the non-motor symptoms of cervical dystonia (CD) is of great clinical importance. We…Striatal dopaminergic dysregulation and dystonia-like movements induced by peripheral nerve crush in a transgene DYT1 mouse model
Objective: To study changes of the dopaminergic pathway of a transgene DYT1 dystonia mouse model after induction of a dystonic phenotype by peripheral nerve crush.…Rapidly progressive cognitive decline and hemi-dystonia due to anti-neuronal surface antibodies
Objective: To describe a case of marked asymmetric coarse tremor and dystonia in patient diagnosed with anti-NMDAR encephalitis. Background: Anti-NMDAR encephalitis has complex and heterogeneous…Unusual expression of fragile X premutation in a female patient: clinical and tractographic description
Objective: To present a case of dystonic head tremor in a female FMR1 premutation carrier. Background: Fragile X-associated tremor ataxia syndrome (FXTAS) is the main…Positive response to Botulinum Toxin injections in a patient with Painless Hand with Moving Fingers: A Case Report and Literature Review
Objective: Objective: We present a rare case and literature review of Painless Hand with Moving Fingers (PHMF) that adequately responded to Onabotulinum toxin A (Botox)…Descriptive Presentation of MRI Findings in Multiple Sclerosis Patients with Tonic Spasm
Objective: It may provide a better gathering of data for further Meta-analyses regarding factors associated with tonic spasm in MS. Background: The lower prevalence of…Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers Background: Women with…Selective Disinhibition of Thalamus by Globus Pallidus Internus: Failure of a Normal Control Mechanism in Childhood Dystonia
Objective: The relationship between injury to basal ganglia and the phenomenology of overflow and dyskinesia in childhood dystonia is not understood. We seek to test…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.