New pathogenic mutation in the Niemann-Pick C (NPC) Type 1 gene: Confirmation by diagnostic workup of NPC in a 41-year-old woman with idiopathic late onset cerebellar ataxia (ILOCA)
Objective: We present an instructive case of a 41-year-old woman with idiopathic late onset cerebellar ataxia. Background: Identifying the cause of idiopathic late onset cerebellar…Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation
Objective: Case Report. Background: Chiari malformation type 1 (CM1) is a congenital neurological disease with posterior fossa hypoplasia and the cerebellar tonsils being forced through…Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease
Objective: We describe a late-onset presentation of Gerstmann-Sträussler-Scheinker disease (GSS) with a novel mutation in the prion protein (PRNP) gene. We compare this case to…The Impact of Antipsychotic Dose Reduction Within a Medicare Population
Objective: To analyze the burden of antipsychotic (AP) dose reduction in Medicare patients with schizophrenia (SZ). Background: Tardive dyskinesia (TD) develops in patients treated with…Ziconotide-Induced Orolingual Dyskinesia: A Case Series
Objective: Our aim is to report three cases of orolingual dyskinesia in adults receiving intrathecal ziconotide for chronic pain management. Background: Ziconotide (ZCN), a nonopioid…Refractory cervical dystonia: is the infiltration of the obliquus capitis inferior muscle a game changer?
Objective: To communicate the results of infiltration of obliquus capitis inferior (OCI) muscle in complex cervical dystonia (CD). Background: Treatment of CD with botulinum toxin…Idiopathic Upper Limb Dystonia – Time for a better understanding
Objective: This cross-sectional study examined the clinical and demographic features of idiopathic adult-onset upper limb dystonia (ULD) related to onset site, spread, and task-specificity in…The Dystonia Coalition Natural History Project: An Available Research Resource
Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.…Intact organization of tactile space in isolated focal dystonia
Objective: To assess the organization of tactile space in patients with focal dystonia. Background: Changes in cortical sensorimotor organization have been previously demonstrated in isolated…The Accreditation and Certification of the Movement Disorders Subspecialty: A Five-Year Follow-Up Study
Objective: The purpose of our study was to assess if sentiments regarding the accreditation and certification of Movement Disorders Fellowships have changed over the past…
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