Cell-based technologies for Huntington's disease

ABSTRACT Huntington's disease (HD) is a fatal genetic disorder, which causes the progressive breakdown of neurons in the human brain. HD deteriorates human physical and mental abilities over time and has no cure. Stem cell-based technologies are promising novel treatments, and in HD, they aim to replace lost neurons and/or to prevent neural cell death. Herein we discuss the use of human fetal tissue (hFT), neural stem cells (NSCs) of hFT origin or embryonic stem cells (ESCs) and induced pluripotent stem cells (IPSCs), in clinical and pre-clinical studies. The in vivo use of mesenchymal stem cells (MSCs), which are derived from non-neural tissues, will also be discussed. All these studies prove the potential of stem cells for transplantation therapy in HD, demonstrating cell grafting and the ability to differentiate into mature neurons, resulting in behavioral improvements. We claim that there are still many problems to overcome before these technologies become available for HD patient treatment, such as: a) safety regarding the use of NSCs and pluripotent stem cells, which are potentially teratogenic; b) safety regarding the transplantation procedure itself, which represents a risk and needs to be better studied; and finally c) technical and ethical issues regarding cells of fetal and embryonic origin

Huntington disease: DNA analysis in brazilian population

Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients

Restless legs syndrome: diagnosis and treatment. Opinion of Brazilian experts

This article contains the conclusions of the November 17-18, 2006 meeting of the Brazilian Study Group of Restless Legs Syndrome (GBE-SPI) about diagnosis and management of restless legs syndrome (RLS). RLS is characterized by abnormal sensations mostly but not exclusively in the legs which worsen in the evening and are improved by motion of the affected body part. its diagnosis is solely based on clinical findings. Therapeutic agents with efficacy supported by Class I studies are dopamine agonists, levodopa and gabapentine. Class 11 studies support the use of slow release valproic acid, clonazepan and oxycoclone. The GBE-SPI recommendations for management of SPI are sleep hygiene, withdrawal of medications capable of worsening the condition, treatment of comorbidities and pharmacological agents. The first choice agents are dopaminergic drugs, second choice are gabapentine or oxycodone, and the third choice are clonazepan or slow release valproic acid.Univ Sao Paulo, Hosp Clin, Dept Neurol, Sao Paulo, BrazilHosp Israelita Albert Einstein, Inst Cerebro, Sao Paulo, BrazilPratica privada, Curitiba, Parana, BrazilPractica Privada, Rio De Janeiro, BrazilUniv Fed Minas Gerais, Dept Clin Med, Belo Horizonte, MG, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Neurol, Sao Paulo, BrazilUNESP, Dept Neurol, Botucatu, SP, BrazilUFCE, Fortaleza, Ceara, BrazilPractica Privada, Porto Alegre, RS, BrazilUniv Fed Goias, Hosp Clin, Serv Neurol, Goiania, Go, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Neurol, Sao Paulo, BrazilWeb of Scienc