The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Targeting GPi: DBS Treating Dystonia in a Patient with Wilson’s Disease
Objective: The primary objective is to determine the efficacy of Deep Brain Stimulation (DBS) targeting the internal segment of the globus pallidus (GPi) on treating…Use of barium swallow using rasgulla to detect focal dystonia of pharyngeal muscles: An indigenous method
Objective: We describe a case series of transfer dysphagia due to focal dystonia highlighting the varied presentation and the utility of barium swallow with rasgulla(small,…Prevalence of focal task specific lower extremity dystonia symptoms in runners
Objective: The objective of this study was to survey a group of self-identified runners to determine the prevalence of symptoms suspected to be lower extremity…Cervical dystonia priori to ataxia in spinocerebellar ataxia type 3 patients
Objective: To report two cases of SCA3 who presented with cervical dystonia as a prominent feature or sole manifestation for many years prior to development…The association of primary dystonia with tics – chance or new syndrome?
Objective: This study aimed to evaluate the association between dystonia and tics as a primary clinical entity. Background: Primary cranio-cervical dystonia (PCCD) is an idiopathic…A New Scale to Measure Impairment in Patients with Writer’s Cramp
Objective: To validate a new writer’s cramp impairment scale (WCIS) and compare it with an existing writer’s cramp rating scale (WCRS) Background: Writer’s cramp (WC)…Generalized dystonia and chorea with family history: Clinical case
Objective: This clinical case intends to highlight the in expansion genotypic base of the genetically undefined benign hereditary chorea, where de adenylate cyclase 5 gene…Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…Analysis of sensory tricks in 45 patients with pantothenate kinase-associated neurodegeneration
Objective: To analyze and classify sensory tricks developed by patients with dystonia in the setting of pantothenate kinase-associated neurodegeneration (PKAN). Background: PKAN is a progressive…
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