Elisa Alonso

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Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10 maps to a 3.8-cM interval on human chromosome 22q13–qter (refs 1,2). Because several other SCA subtypes show trinucleotide repeat expansions, we examined microsatellites in this region. We found an(More)
BACKGROUND AND PURPOSE Elevated plasma levels of homocysteine are associated with an increased risk of deep-vein thrombosis. Through a case-control study, we examined the potential association among homocysteine, folate and vitamin B12 levels, and the common C677-->T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene in patients with cerebral(More)
Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different(More)
von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germline mutations in the VHL gene. Patients have significant morbidity and mortality secondary to vascular tumors. Disease management is centered on tumor surveillance that allows early detection and treatment. Presymptomatic genetic testing is therefore recommended, including in(More)
Friedreich ataxia accounts for approximately 75% of European recessive ataxia patients. Approximately 98% of pathogenic chromosomes have large expansions of a GAA triplet repeat in the FRDA gene (E alleles), and strong linkage disequilibrium among polymorphisms spanning the FRDA locus indicates a common origin for all European E alleles. In contrast, we(More)
Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6,(More)
BACKGROUND AND OBJECTIVE Multiple sclerosis (MS) is a chronic demyelinating disease that affects the central nervous system. Researchers have looked for an association between relapsing-remitting MS (RRMS) and human leukocyte antigen (HLA) as risk or protective factor associated to ethnicity, which may add a partial explanation to disease heterogeneity and(More)
TiO2 anatase nanoparticles have been synthesised by chemical reaction of Diisopropoxititanium bis(acetilacetonate) (DIPBAT) in supercritical CO2. Previous results [1] have shown that product crystallinity is strongly related with temperature, and temperatures higher than 250 oC are necessary to obtain well-crystallized TiO2 anatase. Synthesis pressure (in(More)
OBJECTIVES To estimate the incidence of cognitive impairment (CI) among cognitively healthy, Mexican subjects, and to evaluate the impact of demographic and vascular factors on the conversion to CI and mortality. METHODS 734 eligible subjects (aged 55 to >90 years) from a population-based sample were examined. The cognitive function of participants was(More)
AIM In previous CYP2D6 genotyping studies in Mexican-Amerindians a very low frequency of poor metabolizers (PMs) has been reported. Moreover, ultrarapid metabolizers (UMs) status has only been analyzed in some groups from Northern Mexico. MATERIALS & METHODS In the present study we evaluated the hypothesis of low frequency of PMs in Mexican-Amerindians in(More)