Longitudinal Analysis of fragile X-associated tremor/ataxia syndrome Progression: A One-Year Follow-Up of 24 Patients
Objective: Determine the rate of progression of motor signs in fragile X-associated tremor/ataxia syndrome (FXTAS) over a one-year follow-up. Background: Limited information exists regarding the…Monitoring Progress: Use of the Behavioral Dyscontrol Scale-2 (BDS-2) in FXTAS (Fragile X-associated Tremor Ataxia Syndrome) Progression
Objective: To investigate the use of the neuropsychological BDS-2 measures and its correlation with MRI findings and FXTAS stages[1] Background: Fragile X-associated Tremor Ataxia Syndrome…Parkinsonism in combined Fragile X and XYY Syndromes: A Case Report
Objective: We describe an unusual case of parkinsonism in a 45-year-old male with Fragile X syndrome and XYY syndrome. Background: Fragile X syndrome (FXS) is…Multiple methods to improve recruitment, enrollment, and retention of study participants for validation of the Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)
Objective: Describe multiple methods used to recruit, enroll and retain participants to validate the FXTAS-RS. Background: A clinical outcome assessment (COA) must be developed to…Fragile X Related Tremor in FMR1 Premutation Women without FXTAS
Objective: To determine whether there is a FMR1 premutation associated tremor in women who do not meet criteria for Fragile X-associated tremor ataxia syndrome (FXTAS)…Impact of dual tasking and sensory manipulation on balance in Fragile X-associated tremor/ataxia syndrome (FXTAS) and potential prodromal postural sway deficits in asymptomatic FMR1 premutation carriers
Objective: To detect subtle postural sway deficits in FMR1 premutation carriers who are asymptomatic for signs of FXTAS and determine the impact of dual tasking…Double trouble: dystonic tremor due to FXTAS in a SCA1 family
Objective: To describe a patient belonging to a SCA1 family, who presented with action tremor and dysmetria but with a different genetic etiology. Background: Spino-Cerebellar…Botulinum neurotoxin in FXTAS-related tremor: a “successful” case report
Objective: We report the case of a man affected by FXTAS, presenting with disabling tremor who experienced a significant and long-lasting benefit from botulinum neurotoxin…Fragile X Associated Tremor and Ataxia Syndrome (FXTAS) presents with widespread reactive gliosis and white-matter specific astrocyte degeneration
Objective: We will characterize neuropathological alterations of astrocytes in different regions of the FXTAS brain. Background: FXTAS is a progressive neurodegenerative disorder that occurs in…Metabolic profile in the brain with Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Objective: We analyzed changes in the concentration of primary metabolites in post-mortem brain samples from FXTAS cases. We also investigated how these changes relate to…
- 1
- 2
- 3
- 4
- Next Page »