FXTAS-like Phenotype with p.P626L Missense Mutation: A case report
Objective: To describe p.P626L missense mutation of FMR1 gene in a patient with clinical phenotype of Fragile X Associated Tremor and Ataxia Syndrome (FXTAS). Background:…FXTAS, PD, and ET subjects demonstrate distinct gait, balance and tremor deficits under normal, environmentally challenging, and dual-task conditions
Objective: To compare FXTAS, PD, ET and controls using quantitative measures of gait, balance, and tremor. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease…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…Fragile X Gray Zone Alleles are associated with Higher Global Motor Function in an Elderly Community Population
Objective: To determine the association between FMR1 gray zone expansion and the presence of parkinsonism, motor, and cognitive function in community based individuals. Background: Larger expansions,…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.