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…Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.
Objective: We present a case of Marchiafava-Bignami Disease (MBD), where reversible hyperintensity in Middle Cerebellar Peduncle (MCP-sign) is observed. Background: MCP sign is an infrequent…Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile-X Associated Tremor/Ataxia Syndrome
Objective: To characterize the cerebrospinal fluid (CSF) profile, as well as to identify potential biomarkers, we quantitatively compared the CSF proteome of FXTAS patients with…The Fragile X Mental Retardation Protein is lost prior to the appearance of Lewy pathology in Parkinson’s disease
Objective: The degeneration of dopaminergic (DA) substantia nigra pars compacta (SNc) neurons is a pathological hallmark of Parkinson's disease (PD). Cell death in PD is…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…Fragile X syndrome presenting with levodopa unresponsive parkinsonism
Objective: To describe a case of genetically confirmed Fragile X syndrome presenting with levodopa unresponsive Parkinsonism Background: Parkinsonism with or without ataxia is well recognised…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.