Results 71 to 80 of about 404 (117)
Depressive symptoms in Friedreich ataxia
International Journal of Clinical and Health Psychology, 2018 Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed.
Nieto Barco, Antonieta +3 more
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Iron Storage in Friedreich’s Ataxia
Pediatric Neurology Briefs, 1999 To test the hypothesis that iron is increased in the cerebellum of patients with Friedreich’s ataxia (FA), a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast was used in 12 patients and 23 ...
J Gordon Millichap
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Friedreich’s Ataxia with Retained Reflexes
Pediatric Neurology Briefs, 1995 Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
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Disease Models & Mechanisms, 2012 In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
Alain Martelli +2 more
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Evaluation of the Cases with Friedreich Ataxia
Gulhane Medical Journal, 2013 Friedreich ataxia is an autosomal recessive neurodegenerative disease, which is the most common cause of inherited ataxias. About 95% of the patients demonstrate an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene on chromosome 9q13. This leads to reduced levels of frataxin which has an important role in iron homeostasis. Friedreich
Kurul S.H. +5 more
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Emerging Therapies in Friedreich’s Ataxia
Neurodegenerative Disease Management, 2016 Friedreich's ataxia (FRDA) is an inherited, progressive neurodegenerative disease that typically affects teenagers and young adults. Therapeutic strategies and disease insight have expanded rapidly over recent years, leading to hope for the FRDA population.
Aranca, Tanya +11 more
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Friedreich's Ataxia – A Clinical Diagnosis [PDF]
Journal of Krishna Institute of Medical Sciences University, 2015 Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam +3 more
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AntioxidantsAtaxia is a common neurological feature of Niemann–Pick disease type C (NPC). In this disease, unesterified cholesterol accumulates in lysosomes of the central nervous system and hepatic cells.
Nazgol Motamed-Gorji +9 more
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Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis
Antioxidants, 2014 A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
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