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Journal articles on the topic 'Ataxie de Friedreich'

Author: Grafiati

Published: 4 June 2021

Last updated: 19 February 2022

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1

Schenk, Maren. "Die Friedreich-Ataxie." DMW - Deutsche Medizinische Wochenschrift 135, no. 30 (2010): p27. http://dx.doi.org/10.1055/s-0030-1247690.

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2

Eiber, J., K. Weber, and L. Schöls. "Kardiomyopathie bei Friedreich-Ataxie*." DMW - Deutsche Medizinische Wochenschrift 117, no. 11 (2008): 432–36. http://dx.doi.org/10.1055/s-2008-1062330.

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3

Weidemann, F., F. Scholz, C. Florescu, et al. "Herzbeteiligung bei Friedreich-Ataxie." Herz 40, S1 (2014): 85–90. http://dx.doi.org/10.1007/s00059-014-4097-y.

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4

Hanusch, P., J. Heyn, H. Well, E. Weninger, U. Hasbargen, and M. Rehm. "Periduralanästhesie mit Ropivacain bei Friedreich-Ataxie." Der Anaesthesist 58, no. 7 (2009): 691–94. http://dx.doi.org/10.1007/s00101-009-1579-z.

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5

Peter, S., K. Manousaridis, S. Boesch, and S. Mennel. "Memantin bei Optikusatrophie in Friedreich-Ataxie." Der Ophthalmologe 113, no. 8 (2015): 704–7. http://dx.doi.org/10.1007/s00347-015-0191-7.

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6

Dimitriadis, K., S. Heck, M. Schubert, and T. Klopstock. "Erhaltene Reflexe, Propriozeption, SNAPs: trotzdem Friedreich-Ataxie." Der Nervenarzt 81, no. 4 (2010): 442–43. http://dx.doi.org/10.1007/s00115-010-2946-3.

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7

Rötig, A., A. Munnich, and P. Rustin. "Ataxie de Friedreich et mitochondrie : le puzzle reconstitué." médecine/sciences 14, no. 1 (1998): 104. http://dx.doi.org/10.4267/10608/897.

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8

Rötig, A., A. Munnich, and P. Rustin. "Ataxie de Friedreich et mitochondrie: le puzzle reconstitué." Archives de Pédiatrie 6 (January 1999): S498—S499. http://dx.doi.org/10.1016/s0929-693x(99)80517-x.

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9

Koenig, M., V. Campuzano, M. Cossée, and JL Mandel. "Ataxie de Friedreich : les expansions de triplets frappent encore." médecine/sciences 12, no. 3 (1996): 431. http://dx.doi.org/10.4267/10608/760.

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10

Brendel, B. "Dysarthrieprofile von Patienten mit Friedreich Ataxie und spinozerebellären Ataxien vom Typ 3 und Typ 6." Sprache · Stimme · Gehör 39, no. 04 (2015): 187–91. http://dx.doi.org/10.1055/s-0041-102794.

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11

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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12

Guettard, E., M. Campech, C. Mignard, and M. Masanovic. "Ataxie de Friedreich et troubles vésicosphinctériens, étude à partir d’une population réunionnaise." Annals of Physical and Rehabilitation Medicine 55 (October 2012): e375. http://dx.doi.org/10.1016/j.rehab.2012.07.954.

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13

Mojon, Daniel. "Ocular findings in mitochondrial encephalomyopathies." Therapeutische Umschau 58, no. 1 (2001): 49–55. http://dx.doi.org/10.1024/0040-5930.58.1.49.

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Da die Mitochondrien die Hauptproduzenten von Energie in Form von Adenosin-Triphosphat sind, werden bei Mitochondropathien oft okuläre Gewebe mit hohem Verbrauch an Adenosin-Triphosphat wie der Nervus Optikus, die Retina und das retinale Pigmentepithel betroffen. In diesem Artikel werden die wichtigsten genetisch bedingten okulären mitochondrialen Erkrankungen behandelt. Deren wichtigste ophthalmologische Kennzeichen sind: akuter oder langsam progredienter Visus- und Gesichtsfeldverlust im Rahmen einer meist bilateralen Optikusneuropathie oder einer bilateralen retinalen Pigmentepitheldegenera

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14

Descoins, Médéric, Chantal Verkindt, Bruno Lemarchand, et al. "Tolérance à l’exercice et capacité physique des patients atteints d’une ataxie de Friedreich tardive." Revue Neurologique 173 (March 2017): S176—S177. http://dx.doi.org/10.1016/j.neurol.2017.01.342.

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15

Kleist-Retzow, J. Ch von, K. Chantrel-Groussard, A. Rötig, A. Munnich, and P. Rustin. "Die Friedreich-Ataxie: 3 Jahre nach Identifikation des Gens ein Hoffnungsschimmer für die Therapie." DMW - Deutsche Medizinische Wochenschrift 125, no. 10 (2008): 293–95. http://dx.doi.org/10.1055/s-2007-1024120.

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16

Milne, Sarah C., Louise A. Corben, Melissa Roberts, et al. "Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?" Clinical Rehabilitation 32, no. 5 (2017): 630–43. http://dx.doi.org/10.1177/0269215517736903.

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Objective: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich’s ataxia. Design: Randomized, delayed-start control single-blind trial. Setting: Outpatient rehabilitation centre. Subjects: Ambulant or non-ambulant individuals with Friedreich’s ataxia. Intervention: Participants were randomized to a six-week outpatient rehabilitation programme, immediately (intervention group) or after a six-week delayed-start (control group). The rehabilitation was followed by a six-week home exercise programme. Main measures: The primary ou

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17

Rustin, P., JC von Kleist-Retzow, K. Chantrel-Groussard, et al. "Ataxie de Friedreich : 3 ans après l'identification du gène, un premier espoir d'enrayer le cours de la maladie." médecine/sciences 15, no. 11 (1999): 1314. http://dx.doi.org/10.4267/10608/1267.

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18

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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19

Pérez-Luz, Sara, Frida Loria, Yurika Katsu-Jiménez, et al. "Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich’s Ataxia Patients." International Journal of Molecular Sciences 21, no. 18 (2020): 6662. http://dx.doi.org/10.3390/ijms21186662.

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Friedreich’s ataxia is the most common hereditary ataxia for which there is no cure or approved treatment at present. However, therapeutic developments based on the understanding of pathological mechanisms underlying the disease have advanced considerably, with the implementation of cellular models that mimic the disease playing a crucial role. Human olfactory ecto-mesenchymal stem cells represent a novel model that could prove useful due to their accessibility and neurogenic capacity. Here, we isolated and cultured these stem cells from Friedreich´s ataxia patients and healthy donors, charact

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20

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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21

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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22

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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23

Koeppen, A., A. Sossei, A. Travis, et al. "Microvascular pathology of Friedreich cardiomyopathy." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s2 (2019): S61. http://dx.doi.org/10.1017/cjn.2019.258.

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Nikolaus Friedreich (1877) was aware of heart disease in his patients but thought it was unrelated to the neurological disorder. In 1946, Dorothy Russell considered cardiomyopathy an integral part of Friedreich ataxia (FA). In addition to sparse inflammatory infiltration, sections show fibrosis and capillary hyperplasia. We examined the left ventricular walls of 41 homozygous FA patients aged 10–87 and 21 controls aged 2–69. An antibody to CD34 enabled quantitative capillary profile counts for a comparison with cardiomyocyte counts in the same field. Mean capillary counts in normals were 1926±

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24

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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25

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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26

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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27

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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28

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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29

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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30

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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31

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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32

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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33

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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34

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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35

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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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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37

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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Bolotta, Alessandra, Antonella Pini, Provvidenza M. Abruzzo, et al. "Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology." Experimental Biology and Medicine 245, no. 3 (2019): 201–12. http://dx.doi.org/10.1177/1535370219890873.

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Friedreich’s ataxia is an autosomal recessive disorder characterized by impaired mitochondrial function, resulting in oxidative stress. In this study, we aimed at evaluating whether tocotrienol, a phytonutrient that diffuses easily in tissues with saturated fatty layers, could complement the current treatment with idebenone, a quinone analogue with antioxidant properties. Five young Friedreich’s ataxia patients received a low-dose tocotrienol supplementation (5 mg/kg/day), while not discontinuing idebenone treatment. Several oxidative stress markers and biological parameters related to oxidati

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39

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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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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Taylor, M. J., W. Y. Chan-Lui, and W. J. Logan. "Longitudinal Evoked Potential Studies in Hereditary Ataxias." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 12, no. 2 (1985): 100–105. http://dx.doi.org/10.1017/s0317167100046783.

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ABSTRACT:We studied multimodal evoked potentials (EPs) longitudinally in a series of children with Friedreich’s ataxia and ataxia telangiectasia to determine both their diagnostic utility and their correlation with clinical regression.The auditory brainstem responses (ABRs) were abnormal only in the children with Friedreich’s ataxia. The abnormality seen in these patients was a rostral-caudal loss of the ABR waves. The visual EPs (VEPs) were abnormal in many of the patients; those with ataxia telangiectasia had unusually low amplitude or absent VEPs, occasionally with increased latencies, wher

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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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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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44

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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45

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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46

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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47

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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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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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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Wilson, Robert B. "Therapeutic Developments in Friedreich Ataxia." Journal of Child Neurology 27, no. 9 (2012): 1212–16. http://dx.doi.org/10.1177/0883073812449691.

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Friedreich ataxia is an inherited, severe, progressive neuro- and cardiodegenerative disorder for which there currently is no approved therapy. Friedreich ataxia is caused by the decreased expression and/or function of frataxin, a mitochondrial matrix protein that binds iron and is involved in the formation of iron-sulfur clusters. Decreased frataxin function leads to decreased iron-sulfur cluster formation, mitochondrial iron accumulation, cytosolic iron depletion, oxidative stress, and mitochondrial dysfunction. Cloning of the disease gene for Friedreich ataxia and elucidation of many aspect

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