Predictors of progression in patients with Friedreich ataxia
نویسندگان
چکیده
منابع مشابه
Molecular and Clinical Investigation of Iranian Patients with Friedreich Ataxia
Background: Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by guanine-adenine-adenine (GAA) triplet expansions in the FXN gene. Its product, frataxin, which severely reduces in FRDA patients, leads to oxidative damage in mitochondria. The purpose of this study was to evaluate the triple nucleotide repeated expansions in Iranian FRDA patients and to elucidate distinguishable ...
متن کاملProgression of Friedreich ataxia: quantitative characterization over 5 years
OBJECTIVE Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder of adults and children. This study analyzed neurological outcomes and changes to identify predictors of progression and generate power calculations for clinical trials. METHODS Eight hundred and twelve subjects in a natural history study were evaluated annually across 12 sites using the Friedreich Ataxia Rating Sca...
متن کاملNeurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
BACKGROUND Friedreich ataxia (FA) is the most frequent autosomal recessive cerebellar ataxia. Although the phenotype is well known, disease progression has not been evaluated in a prospective manner. OBJECTIVE To perform a long-term prospective follow-up of neurological, cardiological, and oculomotor function in patients with FA (FA patients). DESIGN In this open-labeled prospective survey,...
متن کاملFriedreich ataxia: neuropathology revised.
Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electro...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2008
ISSN: 0885-3185,1531-8257
DOI: 10.1002/mds.22248