Friedreich ataxia presenting as sudden cardiac death in childhood: Clinical, genetic and pathological correlation, with implications for genetic testing and counselling

Neuromuscular Disorders
Article in Press, Corrected Proof,  doi:10.1016/j.nmd.2010.02.019

Nada Quercia^a, Gino R. Somers^b, William Halliday^b, Paul F. Kantor^c, Brenda Banwell^d and Grace Yoon^{a, d,}

^a Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Canada
^b Department of Paediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Canada
^c Department of Paediatrics, Division of Cardiology, Hospital for Sick Children, Canada
^d Department of Paediatrics, Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, Canada

Received 5 November 2009; 

revised 22 January 2010; 

accepted 23 February 2010. 

Available online 24 March 2010. 

 

Keywords: Friedreich ataxia; Cardiomyopathy; Frataxin; Sudden death

New Period of Brain 'Plasticity' Created With Transplanted Embryonic Cells

ScienceDaily (Mar. 25, 2010) — UCSF scientists report that they were able to prompt a new period of "plasticity," or capacity for change, in the neural circuitry of the visual cortex of juvenile mice. The approach, they say, might some day be used to create new periods of plasticity in the human brain that would allow for the repair of neural circuits following injury or disease.

"It will be important to determine whether transplantation is equally effective in older animals."

Lucina: Lucina

Arch Dis Child 2010;95:316 doi:10.1136/adc.2009.187534 
 

...conditions (autosomal recessive cerebellar ataxias) that includes Friedreich's ataxia. The onset is usually in adolescence and the clinical...difficult) should be restricted to patients with ataxia, but not Friedreich's ataxia or ataxia- telangiectasia, and with a serum AFP concentration...

Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment

Cardiovascular Ultrasound 2010, 8:7doi:10.1186/1476-7120-8-7
 OPEN ACCESS

Maria-Angela Losi , Stefano Nistri , Maurizio Galderisi , Sandro Betocchi , Franco Cecchi , Iacopo Olivotto , Eustachio Agricola , Piercarlo Ballo , Simona Buralli , Antonello D'Andrea , Arcangelo D'Errico , Donato Mele , Susanna Sciomer , Sergio Mondillo  and Working Group of Echocardiography of the Italian Society of Cardiology

Abstract (provisional)

Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge. Moreover, the pathophysiology of HCM is complex because of left ventricular hyper-contractile state, diastolic dysfunction, ischemia and obstruction which often are coexistent in the same patient. In this review, we discuss the current and emerging echocardiographic methodology that can help physicians in the correct diagnostic and pathophysiological assessment of patients with HCM.

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Evidence that yeast frataxin is not an iron storage protein In Vivo

Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseArticle in Press, Accepted Manuscript, doi:10.1016/j.bbadis.2010.03.008

Alexandra Seguin^{a, 1}, Robert Sutak^{a, 1}, Anne-Laure-Bulteau^b, Richard Garcia-Serres^c, Jean-Louis Oddou^c, Sophie Lefevre^a, Renata Santos^a, Andrew Dancis^d, Jean-Michel Camadro^a, Jean-Marc Latour^{c, 2} and Emmanuel Lesuisse^{a, 2, ,}

^a Laboratoire Mitochondries, Métaux et Stress oxydant, Institut Jacques Monod, CNRS-Université Paris Diderot, France.
^b Laboratoire de Biologie et Biochimie Cellulaire du Vieillissement, Université Paris 7, Paris, France.
^c CEA, iRTSV, LCBM, 38054 Grenoble Cedex 9, France; CNRS, UMR5249, Grenoble, France; Université Joseph Fourier, 38054 Grenoble Cedex 9, France
^d University of Pennsylvania, Department of Medicine, Division of Hematology/Oncology, BRBII Room 731, 431 Curie Blvd, Philadelphia PA 19104, USA

Received 10 October 2009; 

revised 14 March 2010; 

accepted 16 March 2010. 

Available online 20 March 2010.

Keyword:  Yeast frataxin; iron; oxidative stress; yfh1; ggc1; Mössbauer; mitochondria 

Polyunsaturated fatty acids, neuroinflammation and well being

Prostaglandins, Leukotrienes and Essential Fatty Acids - 15 March 2010 (10.1016/j.plefa.2010.02.006)

Sophie Layé
Psychoneuroimmunology, Nutrition and Genetic (PsyNuGen), UMR INRA 1286, CNRS 5226, University Bordeaux 2, 146 rue Léo Saignat, 33077 Bordeaux, France

Keygen: diet, microglial cells, astrocytes, inflammatory cytokines, neuroinflammation, polyunsaturated fatty acids (PUFA), n-3 fatty acids, n-6 fatty acids,  prostaglandins, protective role of n-3 fatty acids in neurodegenerative diseases linked to aging.  

Riluzole improves symptoms of cerebellar ataxia

Movement Disorder Virtual University, Date: 3/19/2010

Keywords: Riluzole, cerebellar ataxia, placebo-controlled study,  ALS, hereditary ataxias, MSA-C, FXTAS, Friedreich’s ataxia, ICARS, static function, kinetic function, dysarthria, oculomotor function.

Source:

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial.

Neurology. 2010 Mar 9;74(10):839-45.

Ristori G, Romano S, Visconti A, Cannoni S, Spadaro M, Frontali M, Pontieri FE, Vanacore N, Salvetti M.

Center for Experimental Neurological Therapies, S. Andrea Hospital, II Faculty of Medicine, "Sapienza" University of Rome, Via di Grottarossa 1035-1039, 00189, Rome, Italy giovanni.ristori@uniroma1.it.

Clinical Trial:

Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia

 

 First Received: September 12, 2005   Last Updated: August 6, 2008

Educational Guidelines for children with Friedreich’s Ataxia

Website and Blog for the Sam McMahon Trust

To download the guide here.

Iron binding activity of human iron-sulfur cluster assembly protein hIscA-1

Biochem. J. (2010) Immediate Publication, doi:10.1042/BJ20100122

Jianxin Lu, Jacob P. Bitoun, Guoqiang Tan, Wu Wang, Wenguang Min and Huangen Ding
Biological Sciences, Louisiana State University, Baton Rouge, LA 70803, U.S.A.. hding@lsu.edu

Full text pdf

Keywords: Iron-sulfur cluster biogenesis; human IscA homologue; intracellular iron content, frataxin, Friedreich's ataxia.

Baja predisposición a la inestabilidad del gen de la Ataxia de Friedreich en la población cubana.

Revista Científica de las Ciencias Médicas en Cienfuegos, Vol 8, No 1 (2010).

Resúmenes de los trabajos sobre la atrofia espinocerebelosa
Congreso Nacional de Neurología,1

Baja predisposición a la inestabilidad del gen de la Ataxia de Friedreich en la población cubana.

Dra. Tania Cruz Mariño, Dra. Yanetza González Zaldívar, Dr. José M Laffita Mesa, Dr. Raúl Aguilera Rodríguez, y Dr. Luis Velázquez Pérez.
Centro para la Investigación y la Rehabilitación de las Ataxias Hereditarias. Holguín.

Introducción. Cuba es un archipiélago caribeño cuya población se conformó por criollos descendientes de españoles mezclados con africanos sub-saharianos, chinos, judíos europeos y amerindios en un menor grado. Las ataxias recesivas representan el 9.16% de las ataxias hereditarias en el país; la ataxia de Friedreich es considerada mundialmente como la más común dentro de este grupo. Objetivos. Estimar la prevalencia de la ataxia de Friedreich en Cuba y describir las características tanto de la enfermedad en los individuos afectados como del gen en la población normal. Método. Se realizó estudio molecular mediante Reacción en Cadena de la Polimerasa a 87 individuos afectados por ataxias recesivas o esporádicas. Resultados. Cinco pacientes del occidente de la isla mostraron expansiones en el locus FRDA, estimándose una prevalencia de 1 in 2200000 con una frecuencia de portador de 1 in 745. El estudio de 496 cromosomas normales mostró curtosis y asimetría positiva, el gen tiene una distribución normal con 19 alelos que presentan de 5 a 31 repeticiones de GAA, siendo el de 8 repeticiones el más común. La frecuencia de alelos normales cortos y largos fue de 89,11% y 10,89% respectivamente, no identificándose alelos permutados o expandidos. Europa, en particular España, es una fuente candidata para la inclusión del gen en el heterogéneo fondo genético cubano. Conclusiones. Estos datos sugieren una baja predisposición de la repetición a la inestabilidad y explican la baja prevalencia de la condición. El diagnóstico molecular de la ataxia de Friedreich en familias cubanas es presentado por primera vez.