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…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…Pain and Non-Motor Symptoms in FXTAS
Objective: To report pain and other non-motor symptoms in patients with FXTAS. Background: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder caused by CGG…
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