Jumping stump: Movement disorder with structural CNS pathology – Look before you label
Objective: Introduction. Jumping stump syndrome is considered to be a peripherally induced movement disorder due to damage to peripheral nerves leading to dystonia, myoclonus or…Rapid onset hemidystonia-hemichorea in DYT 12: Is “SWAN NECK” limb deformity a clinical sign?
Objective: Introduction Rapid onset dystonias are uncommon.Common causes are drugs, post-stroke dystonia, or metabolic causes like hypo/hyperglycemia,hypocalcemia or hypomagnesemia Background: Case presentation 11 year boy…Reversible Extrapyramidal features as unusual presentation of central pontine myelinolysis: A case report
Objective: To be acquainted with the extrapyramidal symptoms developed during the course of central pontine myelinolysis. To emphasize the importance of neuroimaging in the diagnosis…Atypical presentation of PANK2 mutation: A case report
Objective: To describe an atypical presentation of a PANK2 mutation. Background: PKAN (Pantothenate-Kinase-Associated Neurodegeneration) is the most common NBIA (Neurodegeneration with brain iron accumulation) disorder,…Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus
Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…Pilot trial of botulinum toxin and occupational therapy for Writer’s Cramp
Objective: We aimed to compare the effects of botulinum toxin (BoNT) therapy alone with a combination of BoNT and occupational therapy on patients with writer’s…Quality of Life and Psychiatric Comorbidities Comparisons in Patients with Functional (Psychogenic) and Organic Movement Disorders
Objective: To compare the quality of life (QoL) and psychiatric comorbidities of patients with functional (psychogenic) movement disorders (FMD) and patients with organic movements disorders…Cervical dystonia in Modigliani’s paintings: The clue was the sensory trick
Objective: To confirm that Jeanne Hebuterne, Modigliani's muse, suffered from cervical dystonia Background: Amedeo Modigliani was one of the most outstanding painters of the XX…Characterizing Bulbar Dysfunction in X-Linked Dystonia-Parkinsonism (XDP): A Pilot Study
Objective: This study aims to characterize bulbar motor impairments in patients with X-linked XDP and to identify clinical correlates for prediction of aspiration. Background: X-linked…Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…
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