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Journal articles on the topic 'Ataxia de Friedrich'

Author: Grafiati

Published: 8 September 2021

Last updated: 29 July 2025

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1

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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Samardzic, Vesna. "Effects of 3-weeks multicomponent rehabilitation in a patient with Friedreich’s ataxia: A case report." Vojnosanitetski pregled, no. 00 (2022): 27. http://dx.doi.org/10.2298/vsp220209027s.

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Introduction. Friedrich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia as the cardinal symptom affects the trunk, with swaying, imbalance and falls, and the limbs, with increasing difficulty in activities of daily living. Physical therapy has been recognised as a mean of managing physical symptoms and maximising function in affected persons. To our knowledge there are no studies that have evaluated the effectiveness of Proprioceptive neuromuscular facilitation (PNF) stabilization techniques in the rehabilitation of patients with this diagnosis. Case report. We presen

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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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4

Portaro, Simona, Margherita Russo, Alessia Bramanti, et al. "The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation." Medicine 98, no. 8 (2019): e14447. http://dx.doi.org/10.1097/md.0000000000014447.

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5

Domínguez, María Florencia, Carolina Gásperi, and Mónica Taborda. "Ataxia de Friedrich: nuevas opciones terapéuticas paliativas. Descripción de un caso clínico." Neurología Argentina 2, no. 2 (2010): 109–11. http://dx.doi.org/10.1016/s1853-0028(10)70029-x.

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6

Albin, Roger L. "Dominant ataxias and Friedreich ataxia." Current Opinion in Neurology 16, no. 4 (2003): 507–14. http://dx.doi.org/10.1097/01.wco.0000084230.82329.d5.

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V., Deepthi R., Seema Pavanam, Vijaya Shenoy, and Siddarth S. Joshi. "FRIEDREICH ATAXIA – A CASE REPORT." Journal of Health and Allied Sciences NU 04, no. 02 (2014): 133–35. http://dx.doi.org/10.1055/s-0040-1703782.

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Abstract:Friedreich ataxia is an autosomal recessive disorder, due to expansion of trinucleotide repeat in Frataxin gene which presents with ataxic gait, absent tendon reflexes, extensor plantar response and positive Romberg test. We present a child who came with complaints of progressive ataxia of gait since the age of 10 years and was diagnosed to have Friedreich ataxia. They have associated cardiomyopathy and endocrine abnormality like diabetes and hypothyroidism.

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Basargina, E. N., V. S. Ermolenko, and I. V. Sil’nova. "Myocardial hypertrophy in infants in pediatric practice." Kazan medical journal 96, no. 4 (2015): 647–53. http://dx.doi.org/10.17750/kmj2015-647.

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Aim. To identify the features of the diseases associated with myocardial hypertrophy, for an earlier differential diagnosis to determine the treatment tactics and to initiate the early treatment. Methods. Clinical examination, family history, cardiac ultrasound with Doppler, ECG, 24-hour ECG monitoring, and computed tomographic aortography and genetics counseling (if indicated) were preformed. Results. During 14 years of observations, 92 patients were included, among them: children with idiopathic hypertrophic cardiomyopathy - 49 (53%), followed by children with Noonan syndrome - 1

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Reddy, P. Hemachandra. "Role of Mitochondria in Neurodegenerative Diseases: Mitochondria as a Therapeutic Target in Alzheimer's Disease." CNS Spectrums 14, S7 (2009): 8–13. http://dx.doi.org/10.1017/s1092852900024901.

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A growing body of evidence suggests that mitochondrial abnormalities are involved in aging and in age-related neurodegenerative diseases as well as cancer, diabetes, and several other diseases known to be affected by mitochondria. Causal factors for most age-related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS), and Friedrich ataxia (FRDA)—are largely unknown. Genetic defects are reported to cause a small number of neurodegenerative diseases (Slide 1), but cellular, molecular, and pathological mechanisms of disease progressio

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10

Alvarez, Vincent, Pierre Arnold, and Thierry Kuntzer. "Very late-onset Friedreich ataxia: later than life expectancy?" Journal of Neurology 260, no. 5 (2013): 1408–9. https://doi.org/10.1007/s00415-013-6874-6.

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11

Finsterer, Josef. "Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 36, no. 4 (2009): 409–28. http://dx.doi.org/10.1017/s0317167100007733.

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Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessiv

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12

Pedroso, Jose Luiz, Pedro Braga-Neto, Irapua Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, and Orlando Graziani Povoas Barsottini. "Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed." Arquivos de Neuro-Psiquiatria 71, no. 6 (2013): 345–48. http://dx.doi.org/10.1590/0004-282x20130036.

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Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedrei

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Tanguy Melac, Audrey, Caterina Mariotti, Antoine Filipovic Pierucci, et al. "Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (2017): 559–65. http://dx.doi.org/10.1136/jnnp-2017-316964.

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BackgroundSensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.MethodsWe evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained. All patients were recruited prospectiv

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Zesiewicz, Theresa A., George Wilmot, Sheng-Han Kuo, et al. "Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia." Neurology 90, no. 10 (2018): 464–71. http://dx.doi.org/10.1212/wnl.0000000000005055.

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ObjectiveTo systematically review evidence regarding ataxia treatment.MethodsA comprehensive systematic review was performed according to American Academy of Neurology methodology.ConclusionsFor patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients w

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Poeta, Loredana, Denise Drongitis, Lucia Verrillo, and Maria Giuseppina Miano. "DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms." Genes 11, no. 6 (2020): 684. http://dx.doi.org/10.3390/genes11060684.

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Unstable repeat disorders comprise a variable group of incurable human neurological and neuromuscular diseases caused by an increase in the copy number of tandem repeats located in various regions of their resident genes. It has become clear that dense DNA methylation in hyperexpanded non-coding repeats induces transcriptional silencing and, subsequently, insufficient protein synthesis. However, the ramifications of this paradigm reveal a far more profound role in disease pathogenesis. This review will summarize the significant progress made in a subset of non-coding repeat diseases demonstrat

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Arruda, Walter Oleschko, and Hélio A. Ghizoni Teive. "Ataxias cerebelares hereditárias: do martelo ao gen." Arquivos de Neuro-Psiquiatria 55, no. 3B (1997): 666–76. http://dx.doi.org/10.1590/s0004-282x1997000400027.

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As heredoataxias constituem grupo complexo de doenças neurodegenerativas hereditárias, para o qual várias formas de classificação clínica e patológica foram propostas com sucesso variável. O desenvolvimento das técnicas de biologia molecular trouxe informações importantes que têm permitido caracterizar geneticamente as ataxias cerebelares hereditárias. O reconhecimento das doenças causadas por expansões de trinucleotídeos abre novo capítulo para a pesquisa sobre outros mecanismos de doenças, como na ataxia de Friedreich e nas várias formas de ataxia cerebelar autossômica dominante(SCAl a SCA7)

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Embiruçu, Emília Katiane, Marcília Lima Martyn, David Schlesinger, and Fernando Kok. "Autosomal recessive ataxias: 20 types, and counting." Arquivos de Neuro-Psiquiatria 67, no. 4 (2009): 1143–56. http://dx.doi.org/10.1590/s0004-282x2009000600036.

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More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these dis

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dos Santos Silva, Mateus, Anna Luiza Guagliardi Domingues, Pamela Benetti, Vitor Roque Dini, Annie de Azeredo Coutinho, and Murillo de Oliveira Antunes. "HIPERTROFIAS MIOCÁRDICAS NA ATAXIA DE FREIDREICH." Revista da Sociedade de Cardiologia do Estado de São Paulo 34, no. 1 (2024): 56–58. http://dx.doi.org/10.29381/0103-8559/2024340156-8.

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A Ataxia de Friedreich é uma ataxia autossômica recessiva em que há envolvimento do sistema nervoso periférico, do sistema nervoso central e cardíaco. Este último ocorre em 2/3 dos doentes e é caracterizado pela presença de hipertrofia ventricular concêntrica. Objetivou-se neste trabalho apresentar o caso clínico de um paciente masculino, 18 anos, que procura ajuda médica com queixa de vertigem e perda de equilíbrio, associado à dispneia aos esforços extra-habituais. Ao ecocardiograma, evidenciada acentuada hipertrofia simétrica de ventrículo esquerdo. Teste genético confirmou positividade par

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19

Perlman, Susan L. "A Review of Friedreich Ataxia Clinical Trial Results." Journal of Child Neurology 27, no. 9 (2012): 1217–22. http://dx.doi.org/10.1177/0883073812453872.

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There are now 21 agents or classes of therapeutic agents in the Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html) that have been developed in the 15 years since the discovery of the frataxin gene, with the ongoing characterization of its mutations and the resulting molecular pathology. Twenty-four studies are currently posted on ClinicalTrials.gov. Twenty-seven works discussing the results of clinical trials in Friedreich ataxia have been published. In 2010, 42 public (National Institutes of Health) and private (Friedreich Ataxia Research Alliance, Muscular Dystrophy As

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20

Altınayar, Sibel. "Friedreich Ataxia." Journal of Parkinson’s Disease and Movement Disorders 18, no. 1-2 (2015): 1–7. http://dx.doi.org/10.5606/phhb.dergisi.2015.01.

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21

Bulsara, Liza, and Sunil Mhaske. "Friedreich Ataxia." Journal of Orthopaedic Education 2, no. 1 (2016): 25–27. http://dx.doi.org/10.21088/joe.2454.7956.2116.6.

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22

Gibilisco, P., and A. P. Vogel. "Friedreich ataxia." BMJ 347, dec03 1 (2013): f7062. http://dx.doi.org/10.1136/bmj.f7062.

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23

Pandolfo, Massimo. "Friedreich Ataxia." Journal of Child Neurology 27, no. 9 (2012): 1204–11. http://dx.doi.org/10.1177/0883073812448534.

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Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications. More recently, scientists have focused their research on an array of general investigations of the underlying cellular basis for the disease, including mitochondrial biogenesis, iron-sulfur cluster synthesis, iron metabolism, antioxidant responses, and mitophagy. Combined with investigations that have explored the pathogenesis of the disease and the

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Koeppen, Arnulf H., R. Liane Ramirez, Alyssa B. Becker, Paul J. Feustel, and Joseph E. Mazurkiewicz. "Friedreich Ataxia." Journal of Neuropathology & Experimental Neurology 74, no. 2 (2015): 166–76. http://dx.doi.org/10.1097/nen.0000000000000160.

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25

Pandolfo, Massimo. "Friedreich ataxia." Seminars in Pediatric Neurology 10, no. 3 (2003): 163–72. http://dx.doi.org/10.1016/s1071-9091(03)00025-1.

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Bodensteiner, John B. "Friedreich Ataxia." Seminars in Pediatric Neurology 21, no. 2 (2014): 72. http://dx.doi.org/10.1016/j.spen.2014.04.004.

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27

Muthuswamy, Srinivasan, and Sarita Agarwal. "Friedreich Ataxia." Neurologist 20, no. 3 (2015): 51–55. http://dx.doi.org/10.1097/nrl.0000000000000054.

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28

Pandolfo, Massimo. "Friedreich ataxia." Journal of the Neurological Sciences 455 (December 2023): 121003. http://dx.doi.org/10.1016/j.jns.2023.121003.

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29

Wallace, Stephanie E., and Thomas D. Bird. "Molecular genetic testing for hereditary ataxia." Neurology: Clinical Practice 8, no. 1 (2018): 27–32. http://dx.doi.org/10.1212/cpj.0000000000000421.

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Purpose of reviewBecause of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia.Recent findingsThere are more than 300 hereditary disorders associated with ataxia. The most common causes of

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Boddaert, Nathalie, Kim Hanh Le Quan Sang, Agnès Rötig, et al. "Selective iron chelation in Friedreich ataxia: biologic and clinical implications." Blood 110, no. 1 (2007): 401–8. http://dx.doi.org/10.1182/blood-2006-12-065433.

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Genetic disorders of iron metabolism and chronic inflammation often evoke local iron accumulation. In Friedreich ataxia, decreased iron-sulphur cluster and heme formation leads to mitochondrial iron accumulation and ensuing oxidative damage that primarily affects sensory neurons, the myocardium, and endocrine glands. We assessed the possibility of reducing brain iron accumulation in Friedreich ataxia patients with a membrane-permeant chelator capable of shuttling chelated iron from cells to transferrin, using regimens suitable for patients with no systemic iron overload. Brain magnetic resonan

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Ashley, Claire N., Kelly D. Hoang, David R. Lynch, Susan L. Perlman, and Bernard L. Maria. "Childhood Ataxia." Journal of Child Neurology 27, no. 9 (2012): 1095–120. http://dx.doi.org/10.1177/0883073812448840.

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Childhood ataxia is characterized by impaired balance and coordination primarily because of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a

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Regner, Sean R., Nicholas S. Wilcox, Lisa S. Friedman, et al. "Friedreich Ataxia Clinical Outcome Measures." Journal of Child Neurology 27, no. 9 (2012): 1152–58. http://dx.doi.org/10.1177/0883073812448462.

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Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. The authors report the progress of a large international noninterventional cohort (n = 410), tracking the natural history of disease progression using the neurologic examination-based Friedreich Ataxia Rating Scale. The authors analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period. The Friedreich Ataxia Rating Scale captured disease progression when used at 1 and 2 years following initial evaluation, with a lower rati

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Ortiz Uriarte, Ramón, Miguel García Ribes, V. Martín Gutiérrez, et al. "Ataxia de Friedreich." Atención Primaria 41, no. 6 (2009): 339–41. http://dx.doi.org/10.1016/j.aprim.2008.09.032.

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Lalitha, A. Nanjundeshwari G. Swetha M. Swetha R. "A Review On Omaveloxolone." International Journal in Pharmaceutical Sciences 1, no. 9 (2023): 447–56. https://doi.org/10.5281/zenodo.8383431.

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Omaveloxolone is a semisynthetic triterpenoid used to treat friedreich’s ataxia. It is the second generation oleananetriterpenoid Nrf2 inducer with antioxidant and anti-inflammatory properties. It is currently used to test in medical trials for freidreich’s ataxia, a genetic, multi –organ disease involving mitochondrial dysfunction. It is a nuclear factor erythroid 2 related factor 2 (Nrf2) activator. It is reviewed under Food and Drug Administration and it has the potential to first approved treatment for friedreich’s ataxia. Omaveloxolone is not the cure for friedreic

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Harvey, Elizabeth A., and Kimberly S. Jones. "Child Neurology: Friedreich ataxia with upper motor neuron findings." Neurology 91, no. 9 (2018): 426–28. http://dx.doi.org/10.1212/wnl.0000000000006086.

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A 16-year-old boy with hypertrophic cardiomyopathy, gait abnormalities, and balance problems was found to have Friedreich ataxia. Though Friedreich ataxia typically renders patients areflexic, this child had upper motor neuron findings of spasticity in both lower extremities, with crossed adductors, and 4+ deep tendon reflexes at the patella and Achilles bilaterally. This unusual presentation of an uncommon genetic disorder led to uncertainty of the patient's true diagnosis until genetic testing confirmed that he had 2 alleles with the Friedreich ataxia mutation.

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Rance, Gary, Louise Corben, and Martin Delatycki. "Auditory Processing Deficits in Children With Friedreich Ataxia." Journal of Child Neurology 27, no. 9 (2012): 1197–203. http://dx.doi.org/10.1177/0883073812448963.

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Friedreich ataxia is a neurodegenerative disease with an average age of onset of 10 years. The authors sought to investigate the presence and functional consequences of auditory neuropathy in a group of affected children and to evaluate the ability of personal FM-listening systems to improve perception. Nineteen school-aged individuals with Friedreich ataxia and a cohort of matched control subjects underwent a battery of auditory function tests. Sound detection was relatively normal, but auditory temporal processing and speech understanding in noise were severely impaired, with children with F

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Ejaz, Resham, Shiyi Chen, Charles J. Isaacs, et al. "Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia." Journal of Child Neurology 33, no. 6 (2018): 397–404. http://dx.doi.org/10.1177/0883073818764941.

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Objective: To determine how mobility device use impacts quality of life in children with Friedreich ataxia. Study Design: Data from 111 pediatric patients with genetically confirmed Friedreich ataxia were collected from a prospective natural history study utilizing standardized clinical evaluations, including health-related quality of life using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Module. Results: Mobility device use was associated with worse mean PedsQL total, physical, emotional, social, and academic subscores, after adjusting for gender, age of disease onset, a

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Saab, Fabio Jorge, Tiago Fialho, Renata Chicarelli Trevisi, Fabrício Pinelli Valarelli, Karina Maria Salvatore de Freitas, and Paula Cotrin. "Tratamento de extração de incisivo inferior em paciente jovem com ataxia de Friedreich: relato de caso." Clinical Orthodontics 22, no. 3 (2023): 91–101. http://dx.doi.org/10.14436/2675-486x.22.3.091-101.art.

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INTRODUÇÃO: A ataxia de Friedreich é uma condição neurodegenerativa lenta, que prejudica a qualidade de vida do paciente, incluindo ataxia de postura e o jeito de andar. OBJETIVO: O presente relato de caso, de um paciente com ataxia de Friedreich, apresenta o tratamento de um apinhamento anteroinferior por meio da extração de um incisivo inferior. RELATO DE CASO: Com base nessas condições limitadas, o objetivo do tratamento ortodôntico foi ser o mais simples e eficaz possível, corrigindo o alinhamento e o apinhamento, conforme solicitado pelos pais. RESULTADOS: O apinhamento anteroinferior foi

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Russo, Michele, Annachiara Nuzzo, Matteo Foschi, et al. "Left atrial appendage thrombosis in a patient with Friedreich Ataxia–related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation." SAGE Open Medical Case Reports 9 (January 2021): 2050313X2110564. http://dx.doi.org/10.1177/2050313x211056419.

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Friedreich ataxia is the most common form of hereditary ataxia. Heart involvement in Friedreich ataxia is common and can include increased left ventricular wall thickness, atrial fibrillation, and in the later stages, a reduction of left ventricular ejection fraction. We present the case of a 45-year-old man with a history of paroxysmal atrial fibrillation and a congestive heart failure, hypertension, age ⩾ 75 years, diabetes mellitus, stroke, vascular disease, age 65–74 years, and female sex (CHA2DS2-VASc) score of only 1 (because of reduced left ventricular ejection fraction) who presented w

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40

Mayo Cabrero, David, Jaime Hernández Cristóbal, Susana Cantarero Duque, et al. "Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española." Medicina Clínica 115, no. 4 (2000): 121–25. http://dx.doi.org/10.1016/s0025-7753(00)71484-9.

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Payne, R. Mark, and Gregory R. Wagner. "Cardiomyopathy in Friedreich Ataxia." Journal of Child Neurology 27, no. 9 (2012): 1179–86. http://dx.doi.org/10.1177/0883073812448535.

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Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger ribonucleic acid for frataxin. Frataxin is an iron-binding protein targeted to the mitochondrial matrix. In its absence, multiple iron-sulfur-dependent proteins in mitochondria and the cytosol lack proper assembly, destroying mitochondrial and nuclear function. Mitochondrial oxidant stress may also participate in ongoing cellular injury. Although progressiv

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Boll-Woehrlen, Marie Catherine, Sarait Nadja Rodríguez-Ibarra, Adriana Ochoa, Leticia Martínez-Ruano, and Ulises Rodríguez-Ortiz. "Taxonomía de las ataxias. Algoritmo de la falta de ritmo." Archivos de Neurociencias 21, no. 3 (2016): 0. http://dx.doi.org/10.31157/an.v21i3.122.

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Las ataxias degenerativas consisten en un grupo heterogéneo de enfermedades que se dividen en una mayoría de entidades hereditarias y formas esporádicas. Con el afán de realizar un estudio exhaustivo y mejorar la calidad de atención de estos pacientes, hemos diseñado un nuevo protocolo clínico y de gabinetes que trata de caracterizar el padecimiento de cada paciente, contemplamos el seguimiento y los tratamientos. La recopilación de estos datos nos permitirá conocer con exactitud las entidades que se presentan en nuestro medio y elaborar el mejor algoritmo diagnóstico y de seguimiento para cad

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Boll-Woehrlen, Marie Catherine, Sarait Nadja Rodríguez-Ibarra, Adriana Ochoa, Leticia Martínez-Ruano, and Ulises Rodríguez-Ortiz. "Taxonomía de las ataxias. Algoritmo de la falta de ritmo." Archivos de Neurociencias 21, no. 3 (2016): 0. http://dx.doi.org/10.31157/archneurosciencesmex.v21i3.122.

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Abstract:

Las ataxias degenerativas consisten en un grupo heterogéneo de enfermedades que se dividen en una mayoría de entidades hereditarias y formas esporádicas. Con el afán de realizar un estudio exhaustivo y mejorar la calidad de atención de estos pacientes, hemos diseñado un nuevo protocolo clínico y de gabinetes que trata de caracterizar el padecimiento de cada paciente, contemplamos el seguimiento y los tratamientos. La recopilación de estos datos nos permitirá conocer con exactitud las entidades que se presentan en nuestro medio y elaborar el mejor algoritmo diagnóstico y de seguimiento para cad

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44

Pandolfo, Massimo. "Mutations causing Friedreich ataxia." Future Neurology 3, no. 1 (2008): 73–85. http://dx.doi.org/10.2217/14796708.3.1.73.

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Millichap, J. Gordon. "Genetics and Friedreich Ataxia." Pediatric Neurology Briefs 16, no. 6 (2002): 45. http://dx.doi.org/10.15844/pedneurbriefs-16-6-7.

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Poole, Matthew L., Jessica S. Wee, Joanne E. Folker, Louise A. Corben, Martin B. Delatycki, and Adam P. Vogel. "Nasality in Friedreich ataxia." Clinical Linguistics & Phonetics 29, no. 1 (2014): 46–58. http://dx.doi.org/10.3109/02699206.2014.954734.

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Tsou, Amy Y., Lisa S. Friedman, Robert B. Wilson, and David R. Lynch. "Pharmacotherapy for Friedreich Ataxia." CNS Drugs 23, no. 3 (2009): 213–23. http://dx.doi.org/10.2165/00023210-200923030-00003.

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Millichap, J. Gordon. "Genetics of Friedreich Ataxia." Pediatric Neurology Briefs 11, no. 6 (1997): 47. http://dx.doi.org/10.15844/pedneurbriefs-11-6-11.

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Cnop, Miriam, Hindrik Mulder, and Mariana Igoillo-Esteve. "Diabetes in Friedreich Ataxia." Journal of Neurochemistry 126 (July 17, 2013): 94–102. http://dx.doi.org/10.1111/jnc.12216.

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Weidemann, Frank, Stefan Störk, Dan Liu, et al. "Cardiomyopathy of Friedreich Ataxia." Journal of Neurochemistry 126 (July 17, 2013): 88–93. http://dx.doi.org/10.1111/jnc.12217.

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