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Journal articles on the topic 'Friedreich's ataxia'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Ahmed, Ahmed Hasan. "Vitamin E Level In Friedreich’s Ataxic Phenotype Patients In Four Major Hospitals In Baghdad." AL-Kindy College Medical Journal 13, no. 1 (2019): 132–36. http://dx.doi.org/10.47723/kcmj.v13i1.143.

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Background: Friedreich ataxia (FRDA) is the most common form of inherited ataxia, comprising one-half of all hereditary ataxias with a carrier rate between 1 in 60 to 1 in 90 and with a disease prevalence of 1 per 29,000. It can occur in two forms the classic form or in association with a vitamin E dependent ataxia. The precise role of Vitamin E in the nervous system is unknown; An Oxidative attack is suspected to play a role in Ataxia with Vitamin E deficiency, as well as in Friedreich ataxia. Vitamin E is the major free-radical-trapping antioxidant. Objective: Theobjectives of the stud

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2

Fomicheva, E. I., R. P. Myasnikov, Y. A. Selivyorstov, S. N. Illarioshkin, E. L. Dadali, and O. M. Drapkina. "Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic." Rational Pharmacotherapy in Cardiology 17, no. 1 (2021): 105–10. http://dx.doi.org/10.20996/1819-6446-2021-01-05.

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Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysarthria, dysphagia, oculomotor disorders, loss of deep tendon reflexes, pyramid signs, diabetes mellitus, visual impairment. Friedreich's ataxia is the most common of all hereditary ataxias; nevertheless, this disease is considered orphan. By its pathogenesis, Friedreich's disease is mitochondrial ataxia, caused by a deficiency in the transcription

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3

Linnemann, C., M. Synofzik, and L. Schols. "Friedreich's ataxia." Drugs of the Future 33, no. 7 (2008): 607. http://dx.doi.org/10.1358/dof.2008.033.07.1228844.

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4

Pearce, J. M. S. "Friedreich's ataxia." Journal of Neurology, Neurosurgery & Psychiatry 75, no. 5 (2004): 688. http://dx.doi.org/10.1136/jnnp.2003.022681.

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5

Kania, Krzysztof, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, and Piotr Sobkiewicz. "FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review." Journal of Education, Health and Sport 40, no. 1 (2023): 111–26. http://dx.doi.org/10.12775/jehs.2023.40.01.010.

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Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system. This neurological condition, characterized by progressive muscle weakness, impaired coordination, and cardiomyopathy, has long posed challenges for both patients and healthcare professionals alike. However, there is newfound hope with the recent approval of Omaveloxolone by the U.S. Food and Drug Administration (FDA).Aim of the study: This review article aims to present a detailed sum

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6

Krishna, Charan G. Prashant Kumar Verma* Sachin Kumar Rahul Karthik Ashwin Dalal. "Case Report: Friedrich Ataxia Friedreich's Ataxia's Paradigm in Nuclear Family in Northern India." International Clinical and Medical Case Reports Journal 3, no. 8 (2024): 1–5. https://doi.org/10.5281/zenodo.13316999.

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Friedreich's ataxia (FA) is a debilitating neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, and cardiomyopathy. It is inherited as an autosomal recessive disease. Friedreich ataxia (FA) is the most common hereditary ataxia accounting for approximately 50% of all ataxia cases <sup>[1,2,3,4]</sup>. Unfortunately, symptoms worsen as time progresses, so most people affected by this disease end up requiring mobility aids such as wheelchairs, lose their vision and hearing, and develop other medical complications such as diabetes mellitus and scoliosis. This c

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7

Picher-Martel, Vincent, and Nicolas Dupre. "Current and Promising Therapies in Autosomal Recessive Ataxias." CNS & Neurological Disorders - Drug Targets 17, no. 3 (2018): 161–71. http://dx.doi.org/10.2174/1871527317666180419115029.

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Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of the Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described. The genetic mutations mostly result in the accumulation of toxic metabolites which causes Pur

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8

WOOD, N. W. "Diagnosing Friedreich's ataxia." Archives of Disease in Childhood 78, no. 3 (1998): 204–7. http://dx.doi.org/10.1136/adc.78.3.204.

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9

SCHWARTZ, IDA V. D., LAURA B. JARDIM, ANA C. S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, and LUCIANE C. LIMA. "Clinical and molecular studies in five Brazilian cases of Friedreich ataxia." Arquivos de Neuro-Psiquiatria 57, no. 1 (1999): 1–5. http://dx.doi.org/10.1590/s0004-282x1999000100001.

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Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedre

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10

Seabury, Jamison, Spencer Rosero, Anika Varma, et al. "Friedreich's Ataxia-Health Index." Neurology: Clinical Practice 13, no. 5 (2023): e200180. http://dx.doi.org/10.1212/cpj.0000000000200180.

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Background and ObjectivesTo develop a valid, disease-specific, patient-reported outcome (PRO) measure for adolescents and adults with Friedreich ataxia (FA) for use in therapeutic trials.MethodsWe conducted semistructured qualitative interviews and a national cross-sectional study of individuals with FA to determine the most prevalent and burdensome symptoms and symptomatic themes to this population. These symptoms and symptomatic themes were included as questions in the first version of the Friedreich's Ataxia-Health Index (FA-HI). We subsequently used factor analysis, beta interviews with 17

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11

Pandolfo, Massimo. "Treatment of Friedreich's ataxia." Expert Opinion on Orphan Drugs 1, no. 3 (2013): 221–34. http://dx.doi.org/10.1517/21678707.2013.771578.

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12

Mariani, C., M. Canesi, S. Barbieri, and G. Pezzoli. "Amantadine for Friedreich's ataxia." Neurology 40, no. 1 (1990): 194. http://dx.doi.org/10.1212/wnl.40.1.194.

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13

Pilch, Jacek, Ewa Jamroz, and Elibieta Marsza. "Topical Review : Friedreich's Ataxia." Journal of Child Neurology 17, no. 5 (2002): 315–19. http://dx.doi.org/10.1177/088307380201700501.

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14

Schmitt, Hubert J., Tino Munster, and Dieter Heuss. "Anesthesia in Friedreich's ataxia." Pediatric Anesthesia 15, no. 11 (2005): 1023–24. http://dx.doi.org/10.1111/j.1460-9592.2005.01725.x.

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15

Tonon, Caterina, and Raffaele Lodi. "Idebenone in Friedreich's ataxia." Expert Opinion on Pharmacotherapy 9, no. 13 (2008): 2327–37. http://dx.doi.org/10.1517/14656566.9.13.2327.

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16

BELL, C. F., J. M. KELLY, and R. S. JONES. "Anaesthesia for Friedreich's ataxia." Anaesthesia 41, no. 3 (1986): 296–301. http://dx.doi.org/10.1111/j.1365-2044.1986.tb12792.x.

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17

Fryer, Michael J. "Antioxidants and Friedreich's ataxia." Lancet 354, no. 9186 (1999): 1300–1301. http://dx.doi.org/10.1016/s0140-6736(05)76073-6.

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18

Milbrandt, Todd A., Justin R. Kunes, and Lori A. Karol. "Friedreich's Ataxia and Scoliosis." Journal of Pediatric Orthopaedics 28, no. 2 (2008): 234–38. http://dx.doi.org/10.1097/bpo.0b013e318164fa79.

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19

Klockgether, Thomas. "Late-Onset Friedreich's Ataxia." Archives of Neurology 50, no. 8 (1993): 803. http://dx.doi.org/10.1001/archneur.1993.00540080014006.

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20

McCabe, D. J. H., F. Ryan, D. P. Moore, et al. "Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia." Journal of Neurology 247, no. 5 (2000): 346–55. http://dx.doi.org/10.1007/s004150050601.

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21

Lad, Meher, Michael Parkinson, Myriam Rai, et al. "URINARY, BOWEL AND SEXUAL FUNCTION IN PATIENTS WITH FRIEDREICH'S ATAXIA." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (2015): e4.167-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.74.

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BackgroundFriedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder leading to ataxia, weakness, peripheral neuropathy, diabetes and cardiomyopathy. Although patients also report urinary, bowel and sexual symptoms these have barely been described in the literature.Methods59 Patients seen in a research clinic in a year were included. Questionnaire scores measuring urinary, bowel and sexual symptoms were compared with validated measures of disease severity.ResultsUrinary symptom scores correlated significantly (p=0.021) with duration of disease symptoms and spasticity score

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22

Chavoix, C., Y. Samson, S. Pappata, et al. "Positron Emission Tomography Study of Brain Benzodiazepine Receptors in Friedreich's Ataxia." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 17, no. 4 (1990): 404–9. http://dx.doi.org/10.1017/s0317167100030973.

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ABSTRACT:Central type benzodiazepine receptors were studied in 9 patients with Friedreich's ataxia and 12 healthy subjects using positron emission tomography (PET) and [11C]Ro 15-1788, a specific antagonist of the central type benzodiazepine receptors, as radioligand. A standard PET procedure was used in 5 patients and 8 controls to obtain brain kinetics of the total binding of the radioligand. The remaining subjects were intravenously injected with a saturating dose of unlabeled Ro 15-1788, 30 minutes after the tracer injection, to determine the nondisplaceable binding of [11C]Ro 15-1788. A s

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23

Albano, Lilian M. J., Mayana Zatz, A. Kim Chong, et al. "Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases." Revista do Hospital das Clínicas 56, no. 5 (2001): 143–48. http://dx.doi.org/10.1590/s0041-87812001000500003.

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INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormali

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24

&NA;. "Idebenone useful in Friedreich's ataxia?" Inpharma Weekly &NA;, no. 1396 (2003): 12. http://dx.doi.org/10.2165/00128413-200313960-00023.

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25

Aranca, Tanya V., Tracy M. Jones, Jessica D. Shaw, et al. "Emerging therapies in Friedreich's ataxia." Neurodegenerative Disease Management 6, no. 1 (2016): 49–65. http://dx.doi.org/10.2217/nmt.15.73.

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26

Millichap, J. Gordon. "Friedreich's Ataxia and Glucose Metabolism." Pediatric Neurology Briefs 2, no. 8 (1988): 58. http://dx.doi.org/10.15844/pedneurbriefs-2-8-3.

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27

González-Cabo, Pilar, and Francesc Palau. "Mitochondrial pathophysiology in Friedreich's ataxia." Journal of Neurochemistry 126 (July 17, 2013): 53–64. http://dx.doi.org/10.1111/jnc.12303.

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28

Ingall, T. J., and J. G. McLeod. "Autonomic function in Friedreich's ataxia." Journal of Neurology, Neurosurgery & Psychiatry 54, no. 2 (1991): 162–64. http://dx.doi.org/10.1136/jnnp.54.2.162.

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29

Pancaro, Carlo, and Dieter Renz. "Anesthetic management in Friedreich's ataxia." Pediatric Anesthesia 15, no. 5 (2005): 433–34. http://dx.doi.org/10.1111/j.1460-9592.2005.01596.x.

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30

Pousset, MD, F. "Parasympathetic Activity in Friedreich's Ataxia." American Journal of Cardiology 78, no. 7 (1996): 847–50. http://dx.doi.org/10.1016/s0002-9149(96)00438-9.

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31

Pousset, Françoise, Hanna Kalotka, Alexandra Durr, et al. "Parasympathetic activity in Friedreich's ataxia." American Journal of Cardiology 78, no. 7 (1996): 847–50. http://dx.doi.org/10.1016/s0002-9149(97)89245-4.

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32

Dürr, Alexandra. "Friedreich's ataxia: treatment within reach." Lancet Neurology 1, no. 6 (2002): 370–74. http://dx.doi.org/10.1016/s1474-4422(02)00162-x.

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33

Lynch, David R., and Susan L. Perlman. "Friedreich's ataxia: the European consortium." Lancet Neurology 14, no. 2 (2015): 130–31. http://dx.doi.org/10.1016/s1474-4422(14)70327-8.

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34

CLARKE, A. "HOMOZYGOSITY MAPPING AND FRIEDREICH'S ATAXIA." Lancet 331, no. 8595 (1988): 1168. http://dx.doi.org/10.1016/s0140-6736(88)91986-1.

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35

Osterziel, K. "Cardiac hypertrophy in Friedreich's ataxia." Cardiovascular Research 54, no. 3 (2002): 694. http://dx.doi.org/10.1016/s0008-6363(02)00333-4.

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36

Abyad, A., and E. Kligman. "Friedreich's Ataxia in the Elderly." Journal of International Medical Research 23, no. 1 (1995): 74–84. http://dx.doi.org/10.1177/030006059502300109.

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37

Hou, Jyh-Gong Gabriel, and Joseph Jankovic. "Movement disorders in Friedreich's ataxia." Journal of the Neurological Sciences 206, no. 1 (2003): 59–64. http://dx.doi.org/10.1016/s0022-510x(02)00321-0.

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38

Gordon, Neil. "Friedreich's ataxia and iron metabolism." Brain and Development 22, no. 8 (2000): 465–68. http://dx.doi.org/10.1016/s0387-7604(00)00175-3.

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39

Fayssoil, A., O. Nardi, D. Orlikowski, and D. Annane. "Hypertrophic cardiomyopathy in Friedreich's ataxia." International Journal of Cardiology 127, no. 3 (2008): e122-e123. http://dx.doi.org/10.1016/j.ijcard.2007.04.109.

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40

Fernandez, J. M., J. Trontelj, and I. Serra-Borrell. "Electromyographic abnormalities in Friedreich's Ataxia." Electroencephalography and Clinical Neurophysiology 61, no. 3 (1985): S190. http://dx.doi.org/10.1016/0013-4694(85)90728-x.

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41

Palau, Francisco, Eugenia Monros, Felix Prieto, JuanJ Vilchez, and JoseM Lopez-Arlandis. "Genetic diagnosis of Friedreich's ataxia." Lancet 338, no. 8774 (1991): 1087. http://dx.doi.org/10.1016/0140-6736(91)91950-y.

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42

Winter, R. M., A. E. Harding, M. Baraitser, and M. B. Bravery. "Intrafamilial correlation in Friedreich's ataxia." Clinical Genetics 20, no. 6 (2008): 419–27. http://dx.doi.org/10.1111/j.1399-0004.1981.tb01052.x.

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43

Singh, Gagandeep, Bryce A. Binstadt, David F. Black, Andrew P. Corr, and Teresa A. Rummans. "Electroconvulsive Therapy and Friedreich's Ataxia." Journal of ECT 17, no. 1 (2001): 53–54. http://dx.doi.org/10.1097/00124509-200103000-00011.

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44

Skre, Håvard. "Friedreich's ataxia in Western Norway." Clinical Genetics 7, no. 4 (2008): 287–98. http://dx.doi.org/10.1111/j.1399-0004.1975.tb00331.x.

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45

Richardson, Timothy E., Heather N. Kelly, Amanda E. Yu, and James W. Simpkins. "Therapeutic strategies in Friedreich's Ataxia." Brain Research 1514 (June 2013): 91–97. http://dx.doi.org/10.1016/j.brainres.2013.04.005.

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46

Lodi, Raffaele, Bheeshma Rajagopalan, Anthony H. V. Schapira, and J. Mark Cooper. "Cardiac bioenergetics in Friedreich's ataxia." Annals of Neurology 54, no. 4 (2003): 552. http://dx.doi.org/10.1002/ana.10744.

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47

Lecocq, Claire, Perrine Charles, Jean-Philippe Azulay, et al. "Delayed-onset Friedreich's ataxia revisited." Movement Disorders 31, no. 1 (2015): 62–69. http://dx.doi.org/10.1002/mds.26382.

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48

Brumback, Roger A. "The Heart in Friedreich's Ataxia." Archives of Neurology 43, no. 2 (1986): 189. http://dx.doi.org/10.1001/archneur.1986.00520020075026.

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49

Pande, Sanket, Saurabh Arora, Ravindra Sonawane, Nilesh Ahire, Suhas Patil, and Madhava Tolani. "Friedreich's ataxia with diabetic ketoacidosis." Journal of the Pediatrics Association of India 8, no. 2 (2019): 89. http://dx.doi.org/10.4103/2667-3592.301450.

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50

Filla, A., G. De Michele, G. Orefice, et al. "A Double-Blind Cross-over Trial of Amantadine Hydrochloride in Friedreich's Ataxia." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, no. 1 (1993): 52–55. http://dx.doi.org/10.1017/s0317167100047417.

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ABSTRACT:We performed a double-blind cross-over study with amantadine hydrochloride in 12 patients with Friedreich's disease and 2 with autosomal dominant cerebellar ataxia. Patients were randomly assigned to a placebo-amantadine or amantadine-placebo sequence. The interval between the treatments was two weeks. Patients were graded according to a functional ataxia scoring scale and videotaped in basal conditions and 90 min after a single oral dose of 100 mg amantadine or placebo. Three evaluators independently scored the videotapes. Statistical analysis showed no significant effect of amantadi

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