Eye movement abnormalities in essential tremor and other neurodegenerative diseases (Parkinson’s disease, spino-cerebellar ataxia, Huntington disease)
Objective: To evaluate eye movement abnormalities in ET patients in comparison with matched according to age and gender controls and patients with other neurodegenerative disease…Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…Progression of motor subtypes in Huntington’s disease: A six-year follow-up
Objective: To investigate the course of motor symptoms in Huntington's disease (HD) and their relationship with cognitive- and general functioning over time. Background: The motor…Temporal course of the UHDRS chorea score in Huntington disease
Objective: To describe the temporal course of Huntington disease (HD) chorea using the total maximal chorea score of the Unified Huntington Disease Rating Scale -…Evaluation of quality of life (QOL), patient- and clinician-reported outcomes with deutetrabenazine treatment of chorea in Huntington disease in first-HD
Objective: To assess if deutetrabenazine treatment of chorea associated with HD resulted in changes in QoL, Patient Global Impression of Change (PGIC), or Clinical Global…Cerebellar GABA in essential tremor and dystonic tremor: A MR spectroscopy study
Objective: To explore the role of GABA in the pathophysiology of ET and DT by using MR spectroscopy. Background: The mechanisms of tremor in ET…Exploring the brainstem functions in cervical dystonia
Objective: To explore the exteroceptive brainstem reflexes in patients with cervical dystonia. Background: Dysfunction of the inhibitory components along the motor system has been reported…
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