Results 41 to 50 of about 3,973 (174)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
Pharmaceuticals, 2018 Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene.
David Alsina +3 more
doaj +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Friedreich’s Ataxia: dance and somatic education a case report
Motriz: Revista de Educacao Fisica, 2018 This research aims to determine the effects of a dance program in dialogue with somatic education in psychomotor aspects in a subject with Friedreich ataxia.
Fanny Aparecida Condé Teixeira +5 more
doaj +1 more source
Cardiovascular Research in Friedreich Ataxia
JACC: Basic to Translational Science, 2022 Summary: Friedreich Ataxia (FRDA) is an autosomal recessive disease in which a mitochondrial protein, frataxin, is severely decreased in its expression.
R. Mark Payne, MD
doaj +1 more source
Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity
Advanced Science, EarlyView.Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu +5 more
wiley +1 more source
Mitochondrial Iron-Sulfur Cluster Dysfunction In Neurodegenerative Disease
Frontiers in Pharmacology, 2014 Growing evidence supports a role for mitochondrial iron metabolism in the pathophysiology of neurodegenerative disorders such as Friedreich ataxia and Parkinson disease as well as in the motor and cognitive decline associated with the aging process. Iron-
Grazia eIsaya
doaj +1 more source
Drug Repositioning in Friedreich Ataxia
Frontiers in Neuroscience, 2022 Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It is a severely debilitating disease that significantly impacts the quality of life of affected patients and reduces ...
Alessandra Rufini +6 more
doaj +1 more source
Advanced Science, EarlyView.Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian +11 more
wiley +1 more source
Paediatria Croatica, 2011 Friedreich’s ataxia (FRDA) is the most common autosomal recessive ataxia. This neurodegenerative disease is caused by expansion of a GAA triplet repeat located within the first intron of the frataxin gene on chormosome 9q13. There is clear correlation between the size of expanded repeat and severity of the phenotype.
M. Čačić Hribljan, M. Jurin
openaire +2 more sources