مورد إلكتروني
Diagnosis and treatment of Friedreich ataxia: a European perspective.
| العنوان: | Diagnosis and treatment of Friedreich ataxia: a European perspective. |
|---|---|
| المصدر: | Nature reviews. Neurology, 5 (4 |
| بيانات النشر: | 2009-04 |
| تفاصيل مُضافة: | Schulz, Jörg Bernhard Boesch, S Bürk, Katrin Dürr, Alexandra Giunti, P Mariotti, Christian Pousset, Francoise Schöls, Lüdger Vankan, Pierre Pandolfo, Massimo |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3-4 cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, decreased vibration sense, muscular weakness in the legs, and a positive extensor plantar response. Non-neurological signs include hypertrophic cardiomyopathy and diabetes mellitus. Symptom onset typically occurs around puberty, and life expectancy is 40-50 years. Friedreich ataxia is usually caused by a large GAA-triplet-repeat expansion within the first intron of the frataxin (FXN) gene. FXN mutations cause deficiencies of the iron-sulfur cluster-containing subunits of the mitochondrial electron transport complexes I, II, and III, and of the iron-sulfur protein aconitase. Mitochondrial dysfunction has been addressed in several open-label, non-placebo-controlled trials, which indicated that treatment with idebenone might ameliorate hypertrophic cardiomyopathy; a well-designed phase II trial suggested concentration-dependent functional improvements in non-wheelchair-bound children and adolescents. Other current experimental approaches address iron-mediated toxicity, or aim to increase FXN expression through the use of erythropoietin and histone deacetylase inhibitors. This Review provides guidelines, from a European perspective, for the diagnosis of Friedreich ataxia, differential diagnosis of ataxias and genetic counseling, and treatment of neurological and non-neurological symptoms. Journal Article Review info:eu-repo/semantics/published |
| مصطلحات الفهرس: | Sciences bio-médicales et agricoles, Antioxidants -- therapeutic use, Diagnosis, Differential, Diagnostic Imaging, Europe -- epidemiology, Friedreich Ataxia -- diagnosis, Friedreich Ataxia -- epidemiology, Friedreich Ataxia -- genetics, Friedreich Ataxia -- therapy, Humans, Muscle, Skeletal -- physiopathology, Neurophysiology -- methods, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article |
| URL: | |
| الإتاحة: | Open access content. Open access content |
| ملاحظة: | No full-text files English |
| أرقام أخرى: | EQY oai:dipot.ulb.ac.be:2013/51515 uri/info:doi/10.1038/nrneurol.2009.26 uri/info:pii/nrneurol.2009.26 uri/info:pmid/19347027 uri/info:scp/67649213875 764593275 |
| المصدر المساهم: | UNIVERSITE LIBRE DE BRUXELLES From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.ocn764593275 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |