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Diagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Tachycardiomyopathy Treated With Ablation by Using 3D Mapping System in a Patient With Friedreich Ataxia.
Pacing Clin Electrophysiol
December 2024
Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
This case report presents the management of tachycardiomyopathy (TCM) in a patient with Friedreich ataxia, a hereditary disorder characterized by progressive neurodegeneration and associated cardiac complications. The patient exhibited severe tachycardia-induced cardiac dysfunction, complicating the clinical picture due to the overlapping neurological symptoms of Friedreich ataxia. Utilizing a 3D mapping system, catheter ablation was performed to accurately identify and target the arrhythmogenic foci contributing to the patient's TCM.
View Article and Find Full Text PDFStabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability.
Nat Commun
December 2024
Department of Biology, Tufts University, Medford, MA, 02155, USA.
Trinucleotide repeats, including Friedreich's ataxia (GAA) repeats, become pathogenic upon expansions during DNA replication and repair. Here, we show that deficiency of the essential replisome component Mcm10 dramatically elevates (GAA) repeat instability in a budding yeast model by loss of proper CMG helicase interaction. Supporting this conclusion, live-cell microscopy experiments reveal increased replication fork stalling at the repeat in mcm10-1 cells.
View Article and Find Full Text PDFAbnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia.
Am J Ophthalmol Case Rep
December 2024
Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital/Harvard Medical School, 300 Longwood Avenue., Boston, MA, 02115, USA.
Purpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy. However, severe photophobia has not been reported nor evaluated with functional magnetic resonance imaging (fMRI).
Methods: A 64-year-old white female with a 37-year history of FDRA presented to the eye clinic with worsening photophobia of 3 years.
Exploring neuropsychiatric symptoms in Friedreich ataxia.
Sci Rep
November 2024
Center of Hereditary Ataxias, Department of Neurology, 2nd Faculty of Medicine and Motol University Hospital, Charles University, Prague, Czech Republic.
Neuropsychiatric symptoms (NPS) are common in hereditary ataxias as a part of the cerebellar cognitive affective syndrome. In Friedreich ataxia (FRDA), one of the most common hereditary ataxias, depressive symptoms were previously reported, but little is known about other NPS. We aimed to study the presence and severity of a broad range of NPS in individuals with FRDA and assess the relationship between the NPS and the disease severity, cognition, and quality of life and to examine the concordance between the NPS reported by the patients and by their informants.
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