Nikolaus, German neurologist, 1825-1882. See: Friedreich ataxia, Friedreich phenomenon, Friedreich sign.
References in periodicals archive ?
At the age of 13 years old, Kalra was diagnosed with Friedreich Ataxia, a disorder that attacks the nervous system and eventually progresses to the point that a wheelchair is needed.
Several studies have employed magnetic resonance spectroscopy to monitor changes in mitochondrial metabolism in human patients with Friedreich ataxia (Nachbauer et al.
In thought and word, Germany's huge heritage includes the works of Luther, Goethe, Schiller, Nietzsche, Kant, Brecht, Max Weber, Schopenhur, Christian Wolff, Friedreich Von Schelling, Immanuel Kant, George Wilhelm Friedrich and Thomas Mann.
This has been found for persons with Down syndrome [2], Parkinson disease [4,12,22], hemiparesis [15], multiple sclerosis [17,19-21,23], Friedreich ataxia [1], and elderly fallers [11].
Edison in November enrolled the first patient in a Phase II study of EPI-743 for Friedreich s ataxia in adults with point mutations, in a trial to be held at University of South Florida (USF) Health and sponsored by a grant from the Friedreich s Ataxia Research Alliance.
Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia.
Friedreich ataxia (FA or FRDA) is an autosomal recessive neurodegenerative disorder caused by mutations in the frataxin (FXN) gene located on chromosome 9q.
Proficiency Testing/External Quality Assessment (PT/EQA) Provider Schemes for Inherited Disorders PT/EQA Provider Source, y Analytes Covered CAP, (22) 2012 Disease-specific schemes: factor V Leiden, fragile X syndrome, hemochromatosis, MTHFR, Prader-Willi /Angelman syndrome, prothrombin, CF, Huntington disease, Friedreich ataxia, hemoglobin SC, Duchenne muscular dystrophy, myotonic dystrophy, RhD, spinal muscular atrophy, spinocerebellar ataxia, BRCA1 and BRCA2, connexin 26, multiple endocrine neoplasia type 2, Canavan disease, familial dysautonomia, Tay-Sachs disease, mucolipidosis IV, Bloom syndrome, Fanconi anemia, Gaucher disease, glycogen storage disease type 1A, Niemann-Pick disease type A.
It was first described in the literature by Friedreich in 1868 when he wrote about two brothers who had the disease.
Measuring the Rate of Progression in Friedreich Ataxia: Implications for clinical trial design.
Some disorders related to mitochondrial iron metabolism Disease OMIM# Inheritance Related eene locus Friedreich ataxia 229300 Autosomal 9ql3,9p23-pll recessive X-linked sideroblastic 300751 X- linked XplL2l anemia recessive Pyridoxine-unresponsive 205950 Autosomal 14q32, 3p22.
These include treatment for cerebral malaria, stroke, brain injury, Friedreich ataxia, periventricular leukomalacia, and schizophrenia (ClinicalTrials.