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Aline Andrade Freund, Rosana Hermínia Scola, Hélio A G Teive, Raquel Cristina Arndt, Magda Clara Vieira da Costa-Ribeiro, Lupe Furtado Alle, Lineu Cesar Werneck
The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies. We examined blood sample from 154 asymptomatic blood donors and 115 individuals with progressive ataxias...
December 2009: Arquivos de Neuro-psiquiatria
Montserrat Milà, Irene Madrigal, Jaime Kulisevsky, Javier Pagonabarraga, Beatriz Gómez, Aurora Sánchez, Laia Rodríguez-Revenga
BACKGROUND AND OBJECTIVES: It has been estimated that 1:1233 males and 1:411 females are FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. PATIENTS AND METHOD: Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year. RESULTS: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome...
July 18, 2009: Medicina Clínica
Nicholas K Gonatas, Anna Stieber, Jacqueline O Gonatas
Fragmentation of the neuronal Golgi apparatus (GA) was reported in amyotrophic lateral sclerosis (ALS), corticobasal degeneration, Alzheimer's and Creutzfeldt-Jacob disease, and in spinocerebelar ataxia type 2 (SCA2). In transgenic mice expressing the G93A mutant of Cu/Zn superoxide dismutase (SOD1) of familial ALS (fALS), fragmentation of the GA of spinal cord motor neurons and aggregation of mutant protein were detected months before the onset of paralysis. Moreover, cells that expressed the G93A and G85R mutants of SOD1 showed fragmentation of the GA and decreased viability without apoptosis...
July 15, 2006: Journal of the Neurological Sciences
I Pérez-Avila, J A Fernández-Vieitez, E Martínez-Góngora, R Ochoa-Mastrapa, M G Velázquez-Manresa
INTRODUCTION: Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence and incidence in Holguín province, Cuba. At present, there is not any drug to counteract the loss of coordinative motor capacities of these patients. Thus physical training seems to be the only way to attenuate the course of disease. AIMS: To evaluate the effectiveness of a physical training program on quantitative neurological indices in SCA2 patients. PATIENTS AND METHODS: A samples of 87 SCA2 patients were studied...
November 16, 2004: Revista de Neurologia
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