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…Developmental Validity of the revised improved version of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)
Objective: To qualitatively validate the revised improved version of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS) for motor signs assessment. Background: Clinimetric analyses…Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…
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