Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive...

different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as...

broader developmental delay.[citation needed] Friedreich ataxia (FA) is the most common genetic cause of ataxia in children. Like A–T, FA is a recessive disease...

storage protein. Reduced expression of frataxin is the cause of Friedreich's ataxia. X-ray crystallography has shown that human frataxin consists of...

distinct from Friedreich's ataxia, spastic paraplegia, and other known types of ataxia, calling the syndrome hereditary cerebellar ataxia, though it became...

have been linked to human diseases such as Huntington's disease and Friedreich's ataxia. Some repetitive elements are neutral and occur when there is an...

accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia, mitochondrial disease and Rett syndrome. The most common acquired...

Friedel–Heid–Grosshans syndrome Friedman–Goodman syndrome Friedreich ataxia congenital glaucoma Friedreich's ataxia Froelich's syndrome Frölich's syndrome Fronto...

recent development has been reported for ataxia, and the drug has been discontinued for Friedreich's ataxia. O’Donnell, Patricio; Dong, Cheng; Murthy...

(December 2022). "Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)". Neurology:...

syndrome Lyme disease Hepatitis C Amyloidosis Acromegaly Kidney failure Friedreich's Ataxia In the treatment of polyneuropathies one must ascertain and manage...

are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. The first documentation of anticipation in genetic...

causes of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations...

drug addictions. R-loop's are found with H3K9me2 mark at FXN in Friedreich's ataxia cells. H3K9me2 is present at a subset of cardiovascular disease-associated...

Human Study of RT001 in Patients With Friedreich's Ataxia" at ClinicalTrials.gov Zesiewicz T, Heerinckx F, De Jager R, Omidvar O, Kilpatrick M, Shaw...

syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Friedreich's ataxia Frontotemporal dementia Functional neurological symptom disorder...

D2-linoleic acid ethyl ester (RT001) for Friedreich's ataxia, sponsored by Retrotope and Friedreich's Ataxia Research Alliance, was conducted to determine...

2020. "CRISPR and Capsida Partner in Gene Edited Therapies for ALS, Friedreich's Ataxia". BioSpace. 15 June 2021. "CRISPR Therapeutics inks deal with Nkarta...

clinic. It has passed Phase I/II clinical trial for the treatment of Friedreich's ataxia (FA), in which RT001 was shown to be safe, well tolerated and beneficial...

SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal...

corneal endothelial cell loss associated with cataract surgery Friedreich’s ataxia, and mitochondrial myopathies. Reata is also actively engaged in...

(one being dysmetria), they are considered to be heterogeneous. Friedreich's ataxia is a relatively common cause of dysmetria. Cerebellar malformations...

Libre de Bruxelles. 12 October 2017. Cnop, Miriam (2012). "Central role and mechanisms of Beta cell dysfunction and death in Friedreich ataxia-associated...

cerebellar disorders was seen in 1861 when the German pathologist Nikolaus Friedreich published his paper titled "familial spino-cerebellar degeneration." His...

; Mandel, J.-L.; Cocozza, S.; Koenig, M.; Pandolfo, M. (1996). "Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat...

cerebellum on cognition, including patients with spinocerebellar ataxia, Friedreich's ataxia, and mice with spontaneous mutations causing cerebellar damage...

Defective iron sulfur biogenesis causes several diseases, including Friedreich ataxia, and four new diseases that our group helped to discover and characterize...

other descriptions of RLS were published, including by Theodor Wittmaack [de] (1861) (in relation to whom it is sometimes known as Wittmaack-Ekbom syndrome)...

Wells M, Seyer L, Schadt K, Lynch DR (December 2015). "IFN-γ for Friedreich ataxia: present evidence". Neurodegenerative Disease Management. 5 (6): 497–504...

syndrome, spondyloepiphyseal dysplasia congenita, Flynn–Aird syndrome, Friedreich ataxia, Hurler syndrome (MPS-1), Kearns–Sayre syndrome (CPEO), Norrie syndrome...