Fragile X syndrome presenting with levodopa unresponsive parkinsonism
Objective: To describe a case of genetically confirmed Fragile X syndrome presenting with levodopa unresponsive Parkinsonism Background: Parkinsonism with or without ataxia is well recognised…Fragile X Gray Zone Alleles in Men are associated with Parkinsonism
Objective: To determine the association between FMR1 gray zone expansions and the presence of parkinsonism, motor, and cognitive function in an elderly community-based population. Background:…Unusual expression of fragile X premutation in a female patient: clinical and tractographic description
Objective: To present a case of dystonic head tremor in a female FMR1 premutation carrier. Background: Fragile X-associated tremor ataxia syndrome (FXTAS) is the main…Acute Stroke in Middle Cerebellar Peduncle in a Patient with FXTAS
Objective: Report a case of Fragile X associated Tremor/Ataxia Syndrome (FXTAS) with acute middle cerebellar peduncle (MCP) infarction, and highlight the potential susceptibility of the…Fast paced gait may be more discriminating than dual tasking for detecting severity of gait and turn deficits in FXTAS
Objective: Determine the impact of dual task (DT) cognitive interference and fast paced walking on gait and the relationship between cognition, gait and falls in…Open-label pilot trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To determine if citicoline was safe and effective for treatment of tremor and balance abnormalities and stabilization of cognitive decline in patients with FXTAS.…Cognitive function impacts gait, functional mobility and falls in Fragile X-Associated Tremor/Ataxia Syndrome
Objective: To investigate the associations between executive function and information processing speed and gait, turning and falls in fragile X premutation carriers (PMC) with and…Antisense FMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
Objective: To determine the role of a splice variant of the antisense fragile X mental retardation 1 (ASFMR1) gene, loss of FMR1 AGG interspersions and…Changes in brain network activation (BNA) in patients with fragile x-associated tremor/ataxia syndrome (FXTAS)
Objective: We aimed to assess the ability of Brain Network Activation (BNA) EEG analysis to differentiate between patients with fragile X-associated tremor/ataxia syndrome (FXTAS), Parkinson’s…Fragile X-associated tremor/ataxia syndrome, Parkinson’s disease, and essential tremor subjects demonstrate distinct tremor characteristics using quantitative tremorography
Objective: To compare Fragile X-associated tremor/ataxia syndrome (FXTAS), Parkinson disease (PD), essential tremor (ET) and controls using quantitative measures of tremor. Background: FXTAS, a progressive…