Results 61 to 70 of about 404 (117)
Friedreich's Ataxia and Glucose Metabolism
Pediatric Neurology Briefs, 1988 Glucose metabolism was investigated in 21 patients with FA at the Instituto Neurogico, Cattedra di Clinica Medica, Milan, Italy.
J Gordon Millichap
doaj +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1733-1735, August 2026.ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman +5 more
wiley +1 more source
Journal of Child Neurology, 2012 Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications.
openaire +3 more sources
Case Reports in Neurological Medicine, 2018 Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao +2 more
doaj +1 more source
Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.Abstract INTRODUCTION Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal phase of Lewy body diseases and linked to a high risk for cognitive decline. Therefore, iRBD provides a suitable window for early intervention. METHODS In the monocentric randomized controlled trial “Cognitive Training & a Healthy, Active Lifestyle ...
Anja Ophey +18 more
wiley +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Aging Cell, Volume 25, Issue 8, August 2026.Microglia, the brain's resident macrophages, undergo metabolic reprogramming during aging, which impacts brain health and neurodegenerative disease risk. Understanding mechanisms of microglial metabolic regulation is key to the development of therapeutic strategies to promote homeostasis and mitigate harmful neuroinflammatory processes that contribute ...
Seokjo Kang, Helen S. Goodridge
wiley +1 more source
Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1346-1356, July 2026.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
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1452-1466, July 2026.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
Nature Communications, 2020 Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by ...
Pietro Giuseppe Mazzara +19 more
doaj +1 more source