NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Objective: To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…Dystonia Gravidarum Improved After Joint Position Error Training
Objective: Describe a case of new dystonia gravidarum improving with joint position error training Background: KB is a previously healthy 34-year-old primiparous female without previous…Marc Chagall’s L’homme à La Tète Renversée (Man with His Head Thrown Back) – An Artistic Depiction of Severe Retrocollis in Neurodegeneration with Brain Iron Accumulation
Objective: To propose that Marc Chagall’s L’Homme À La Tète Renversée (Man With His Head Thrown Back) could be a depiction of severe retrocollis due…Treatment of back pain in patient with extensor truncal dystonia with lumbar radiofrequency ablation (RFA)
Objective: Extensor truncal dystonia in majority of cases leads to significant low, mid back pain and discomfort secondary to muscle spasms and early degenerative spinal…Focused ultrasoud ventro-oral thalamotomy for musician’s dystonia
Objective: We investigated the effect of focused ultrasound Vo-thalamotomy for musician’s dystonia. Background: Lesioning of the ventro-oral nucleus (Vo-thalamotomy) is an effective treatment for musician’s…Two sides of a Rare Coin- First report of Rapid onset dystonia-parkinsonism (RDP) and Alternating Hemiplegia of Childhood (AHC) with paroxysmal dystonia from India.
Objective: To report clinical findings in two Indian cases: 1. RDP and 2. AHC with paroxysmal dystonia. These two rare conditions are allelic disorders caused by…Basal Ganglia Infarction and Striatal Toe- A Case Report
Objective: Pathology in the neostriatum (putamen and caudate) may cause deformities of the hand and foot. Striatal toe is a term used to describe the…Oculogyric Crisis Due to Treatment With flunarizine
Objective: To report the first case of oculogyric crisis (OC) secondary to flunarizine. Background: Oculogyric crisis (OC) are an infrequent neurologic complication of dopamine antagonists…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.