Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…Potential preclinical gait and balance markers for developing Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Objective: To conduct gait and balance “stress” tests including those with dual task (DT) cognitive interference which we hypothesized would reveal early motor impairments in…Neurodegenerative disorders with atypical course and cause, diagnostic contribution of genetics and magnetic resonance imaging, two case reports
Objective: We present two case reports – the first patient originally diagnosed with typical essential tremor and the second one with high suspicion on spinocerebellar…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…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…