... Abstract Friedreich ataxia (FRDA) is the most common hereditary ataxia. It is a progressive autosomal recessive neurodegenerative disorder associated with an increased risk of impaired glucose tolerance and overt diabetes mellitus. FRDA is caused by a genetic mutation inserting a GAA (guanine...

...-dominant” inheritance in Friedreich's ataxia. J Med Genet 1981;18:285-287. 3. Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig: Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997;94:7452-7457...

... common under the age of 20, but may occur suddenly in older patients in their fourth or fifth decades.Cardiac disorders are found with some frequency in patients with scoliosis. They may occur in conditions such as Marfan’s Syndrome or Friedreich’s Ataxia in which scoliosis is also part. Diagnostic...

... P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P: Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-217. 7. Otaki Y, Nakanishi T, Hasuike Y, Moriguchi R, Nanami M, Hama Y, Izumi M, Takamitsu Y: Defective regulation of iron...

... ]. The dysregulation of mitochondrial functioning may lead to functional iron deficiency, hyporesponsiveness to erythropoiesis-stimulating agents and oxidative stress. Friedreich's ataxia (FRDA) is a hereditary disorder caused by transcriptional silencing of the frataxin gene [ 25 ]. In most FRDA patients, a GAA...

... in Friedreich ataxia. Mov Disord 2012;27:332-333. 25. Walter U, Krolikowski K, Tarnacka B, et al: Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease. Neurology 2005;64:1726-1732. 26. Svetel M, Mijajlović M, Tomić A, et al: Transcranial sonography in Wilson's...

... predictive value of 97% [ 11 ]. The area of SN echogenicity was shown to also be smaller in Friedreich's ataxia (FA) patients and significantly associated with the occurrence of RLS symptomatology. A prevalence of SN- was found to be significantly higher in FA patients (44%) than in controls (11.8%) [ 24...

...):493–7. 18. Bidichandani SI, Delatycki MB, Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al. Friedreich ataxia. In: GeneReviews® [Internet]. Seattle: University of Washington; 1993–2020. 1998 Dec 18 [updated 2017 Jun 1]. 19. von Recklinghausen F. Ueber die multiplen Fibroma der Haut und ihre...

... described by Friedreich in 1868 [ 55 ] and wrongly included as true acromegaly in his monograph of 1886 by Pierre Marie [ 56 ], who later recognized them as a diagnostic error [ 57 ]. Translational Evidence for the Pathogenesis of Pituitary Tumors Arising from Somatotroph and Lactotroph Progenitors...

... a spinocerebellar syndrome with variable peripheral nerve involvement. The phenotype is similar to that of Friedreich's ataxia. The clinical features include cerebellar ataxia, hyporeflexia, proprioceptive, and vibratory loss, and an extensor plantar response. Cutaneous sensations may be affected to a lesser degree...

..., mitochondrial dysfunction and oxidative stress also contribute to other neurodegenerative diseases such as amyotrophic lateral sclerosis, Friedreich ataxia and hereditary spastic paraplegias sclerosis [ 247 , 248 , 249 ]. Apoptosis induced by mitochondrial dysfunction could play an important role...

... isodisomy in a north American patient cohort. Am J Med Genet A. 2020 Mar;182(3):493–7. 18. Bidichandani SI, Delatycki MB, Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al. Friedreich ataxia. In: GeneReviews® [Internet]. Seattle: University of Washington; 1993–2020. 1998 Dec 18 [updated 2017 Jun 1...

... and cellular stress response in Friedreich's ataxia. J Neurol Sci 2005;233:145-162. 249. Atorino L, et al: Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 2003;163:777-787. 250. Wallace DC...