Clinical Guidelines on Best Practice

Charity rolls out new ataxia guidelines
National guidelines have been launched for the treatment and care of ataxia. The 50-page guidelines are now available free of charge from national charity Ataxia UK.

“Although more than 10,000 people in the UK have a type of ataxia, many doctors and medical professionals may not be aware of the condition or how to treat it,” said Dr Liz Harrison, Chair of Ataxia UK.

“From what our members tell us, there is a big need for the guidelines. Covering a wide range of topics including genetic testing, occupational therapy, and palliative care, we hope that any professionals with an interest in ataxia will take up the offer of a free copy.”

The guidelines have been drawn up with the help of neurologists, geneticists, and experts in other disciplines including speech and language therapy and physiotherapy. For the first time the guidelines have a section on occupational therapy that is accredited by the College of Occupational Therapy.

Dr Harrison said, “Improving treatment and care for people with ataxia is one of our main aims as a charity, along with funding research and supporting people who live with the condition. Although we are not a big charity, we believe the professional standard of our new guidelines shows that smaller groups can still influence and improve care.’

Ataxia UK also aims to roll out a system of accredited Ataxia Centres round the UK, and has just opened the third in Oxford. The model offers specialist clinics with neurologists and support from a dedicated Ataxia Nurse, with the aim of providing integrated care and referrals for ataxia patients.

Notes
• Ataxia means ‘lack of order’. People with ataxia have a type of degenerative neurological disorder that affects walking, speech, and co-ordination. Over 10,000 people in the UK have ataxia and there is currently no cure. A recent study showed that just 7% of the public know what ataxia is.
• Ataxia UK is the national charity for people affected by ataxia, providing support services and funding ground-breaking research. In the past five years they have spent over £3 million on research into treatments and a possible cure for ataxia, with several important breakthroughs. Charity no: 1102391 www.ataxia.org.uk
• Guidelines for the management and treatment of ataxia are available now from Ataxia UK, contact 020 7582 1444 or email research@ataxia.org.uk

For more information please Claire McGowan on 020 7587 3925 mob 0779 2214508 email cmcgowan@ataxia.org.uk

Neuropatía auditiva, diagnóstico y manejo audiológico - Auditory neuropathy / dyssychrony, assessment and audiologic management

Rev. Otorrinolaringol. Cir. Cabeza Cuello 2009; 69: 271-280,

Oscar Cañete S1.
1 Tecnólogo Médico, Servicio de Otorrinolaringología, Hospital Padre Hurtado.

Palabras clave: Neuropatía auditiva, des sincronía auditiva, desorden del espectro de neuropatía auditiva, hipoacusia neural, hipoacusia en neonatos de riesgo, potenciales evocados de tronco, ataxia de Friedreich, Charcot-Marie-Tooth.

Keywords: Auditory neuropathy, Neural hearing loss, Auditory evoked potentials, Auditory Dyssynchrony. Hearing loss in high risk newborns, Friedreich's ataxia, Charcot-Marie-Tooth.

FULL TEXT (Spanish)

Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

BMC Biochemistry 2010, 11:5doi:10.1186/1471-2091-11-5
Sergio Goncalves , Vincent Paupe , Emmanuel P Dassa , Jean-Jacques Briere , Judith Favier , Anne-Paule Gimenez-Roqueplo , Paule Benit and Pierre Rustin


Published: 28 January 2010

OPEN ACCES

Abstract (provisional)

Background

In the last ten years, deficiencies in tricarboxylic acid cycle (TCAC) enzymes have been shown to cause a wide spectrum of human diseases, including malignancies and neurological and cardiac diseases. A prerequisite to the identification of disease-causing TCAC enzyme deficiencies is the availability of effective enzyme assays.

Results

We developed three assays that measure the full set of TCAC enzymes. One assay relies on the sequential addition of reagents to measure succinyl-CoA ligase activity, followed by succinate dehydrogenase, fumarase and, finally, malate dehydrogenase. Another assay measures the activity of -ketoglutarate dehydrogenase followed by aconitase and isocitrate dehydrogenase. The remaining assay measures citrate synthase activity using a standard procedure. We used these assays successfully on extracts of small numbers of human cells displaying various severe or partial TCAC deficiencies and on frozen heart homogenates from heterozygous mice harboring an SDHB gene deletion.

Conclusion

This set of assays is rapid and simple to use and can immediately detect even partial defects, as the activity of each enzyme can be readily compared with one or more other activities measured in the same sample.

FULL TEXT (pdf)

NMR assignments of a stable processing intermediate of human frataxin

Biomolecular NMR Assignments, ISSN1874-2718 (Print) 1874-270X (Online), DOI10.1007/s12104-010-9209-x

Kalyan C. Kondapalli¹, Krisztina Z. Bencze¹, Eric Dizin², James A. Cowan² and Timothy L. Stemmler¹

(1)	Department of Biochemistry and Molecular Biology, Wayne State University School of Medicine, Detroit, MI 48201, USA

(2)	Evans Laboratory of Chemistry, Ohio State University, 100 West 18th Avenue, Columbus, OH 43210, USA

Received: 25 September 2009  Accepted: 10 January 2010  Published online: 28 January 2010 

Keywords:  Friedreich’s ataxia - Iron chaperone - Frataxin - Iron-sulfur cluster biosynthesis - ISU 

Cardiac manifestations of neuromuscular disorders in children

Daphne T. Hsu
Children's Hospital at Montefiore and the Albert Einstein College of Medicine, 3415 Bainbridge Avenue, Bronx, New York 10467

Keywords: Cardiac abnormalities, neuromuscular disorders, cytoskeleton, nuclear membrane, mitochondrial function, muscular dystrophies- Duchenne, Becker, limb-girdle and Emery Dreifuss, Friedreich Ataxia, myotonic dystrophy, dilated or hypertrophic cardiomyopathy, atrioventricular conduction defects, atrial fibrillation and ventricular arrhythmias.

Uncommon Features in Cuban Families Affected with Friedreich Ataxia

Neuroscience Letters
Article in Press, Accepted Manuscript
 
Tania Cruz Mariñoa, , , Yanetza González Zaldivarb, Jose Miguel Laffita Mesab, Luis Almaguer Mederosb, Raul Aguilera Rodríguezb, Dennis Almaguer Gotayb, Roberto Rodríguez Labradab, Nalia Canales Ochoab, Patrick MacLeodc and Luis Velázquez Pérezb, ,


a Center of Medical Genetics, Holguín, Cuba
b Center for Research and Rehabilitation of Hereditary Ataxias “Carlos Juan Finlay” (CIRAH), Holguín, Cuba
c Division of Medical Genetics, Department of Pathology, Laboratory Medicine and Medical Gentics, Victoria General Hospital, Canada

Received 15 September 2009; revised 23 December 2009; accepted 21 January 2010. Available online 28 January 2010.

A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels.

Anal Chim Acta. 2010 Feb 5;659(1-2):129-132. Epub 2009 Nov 27.

Steinkellner H, Scheiber-Mojdehkar B, Goldenberg H, Sturm B.
Medical University of Vienna, Department of Medical Chemistry, Waehringerstr. 10, 1090 Vienna, Austria.

Keywords: Friedreich's ataxia (FRDA), GAA-trinucleotide expansion, frataxin, measuring frataxin protein levels, electrochemiluminescence assay (ECLIA), human and mouse samples, highly quantitative, accurate, reproducible, low intra- and inter-assay error, new tool.

Automatic method of pause measurement for normal and dysarthric speech.

Clin Linguist Phon. 2010 Feb;24(2):141-54.

Rosen K, Murdoch B, Folker J, Vogel A, Cahill L, Delatycki M, Corben L.

The University of Queensland, Brisbane, Australia.

Keywords:  conversational speech,  Friedreich's Ataxia (FRDA).

Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency

Gonzalez-Cabo P, Ros S, Palau F (2010) Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency. PLoS ONE 5(1): e8872. doi:10.1371/journal.pone.0008872

OPEN ACCESS

Pilar Gonzalez-Cabo^1,2#, Sheila Ros^1,2#¤, Francesc Palau^1,2*

1 Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, Valencia, Spain, 2 CIBER de Enfermedades Raras (CIBERER), Valencia, Spain

Abstract

Background

Friedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative electronic transfer flavoproteins, suggesting that frataxin could participate in the oxidative phosphorylation.

Methods and Findings

Here we have investigated the effect of riboflavin and its cofactors flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) in Saccharomyces cerevisiae and Caenorhabditis elegans models of frataxin deficiency. We used a S. cerevisiae strain deleted for the yfh1 gene obtained by homologous recombination and we assessed growth in fermentable and non-fermentable cultures supplemented with either riboflavin or its derivates. Experiments with C. elegans were performed in transient knock-down worms (frh-1[RNAi]) generated by microinjection of dsRNA frh-1 into the gonads of young worms. We observed that FAD rescues the phenotype of both defective organisms. We show that cell growth and enzymatic activities of the ETC complexes and ATP production of yfh1Δ cells were improved by FAD supplementation. Moreover, FAD also improved lifespan and other physiological parameters in the C. elegans knock-down model for frataxin.

Conclusions/Significance

We propose that rescue of frataxin deficiency by FAD supplementation could be explained by an improvement in mitochondrial respiration. We suggest that riboflavin may be useful in the treatment of Friedreich ataxia.

FULL TEXT PDF

Activities of daily living scale--the tool for clinical state monitoring of spinocerebellar ataxia and Friedreich ataxia patients.

Renaissance Medical Publishing