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Salmonella enterica is a well-adapted zoonotic bacterium associated to cases of gastroenteritis and bacteremia with increased morbidity and mortality. In this study, three isolates of Salmonella Typhimurium obtained from human clinical samples, showing colistin resistance and low-level resistance to quinolones, have been genetically characterized. We detected the co-occurrence of mcr-1 and qnrS1 on a single IncHI2 plasmid in isolates of Salmonella Typhimurium obtained from Spanish children without a travel history. The multiresistant region contained numerous resistance genes. Isolates were clonally related, which suggests the presence of these clones in the community and the potential to cause outbreaks affecting the most susceptible population. It is necessary to monitor the presence of these plasmid-mediated resistance genes in human European strains of Salmonella spp. because of the risk of producing outbreaks of community-acquired infections.

Controversial data have been reported about SCA8 since its description in 1999. The most accepted hypothesis is that CTG expansions within the CTA/CTG combined repeat expansion in the SCA8 locus causes SCA8. It is inherited as a dominant trait with reduced penetrance. The present study, reports the first data regarding SCA8 in the Spanish population and the clinical findings in patients carrying expanded alleles, including one homozygous patient. Two hundred and forty-six individuals from the Spanish population, including controls (149) and ataxic patients (97), were studied. DNA was extracted from blood samples using standard methods. Amplification of the CTA/CTG 3'untranslated region was achieved by PCR using primers SCA8-F3 and SCA8-R4 and conditions described previously. Neurological reevaluation was done in individuals carrying the expanded allele. We detected five unrelated expanded alleles corresponding to three affected patients (one of them homozygous) and one healthy individual. SCA8 represents 4% of the total dominant spinocerebellar ataxias studied in our group (Spanish population) (three index patients out of 75 dominant ataxic independent nucleus). The patient that resulted homozygous for the expansion is a 25-year-old man with a clinical picture of progressive ataxia and dysarthria that began at the age of 12. On neurological examination, he showed ataxia, slight dysarthria and nystagmus to the extreme lateral gaze. A cranial MRI showed global atrophy of cerebellum but the brainstem was spared. Family history showed the presence of ataxia in his grandfather and father. His mother is healthy at the age of 52 and a molecular study of SCA8 reveals one allele that could be considered as premutated. She has no ataxia antecedents in her family. Our results provide additional information about the SCA8 expansion, within the Spanish population. These results are in agreement with the hypothesis of the CTG expansion in the SCA8 locus being responsible for the SCA8 ataxia showing reduced penetrance. Besides homozygous status, advancing age at onset (as previously described for other SCAs) supports this idea.

Introduction: Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets., Case Report: Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic., Results and Discussion: There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.

Introduction: Over the past decade, from the genetic point of view, several of the entities included in the group of hereditary ataxias have been identified. We report a Spanish family with type 8 spinocerebellar ataxia (SCA8), one of the most recent hereditary ataxias to be described from the clinical and genetic points of view., Clinical Case: A 59 year old woman consulted us complaining of progressive dysarthria and unsteady gait. The only abnormal findings on neurological examination were those of cerebellar involvement. The patient s mother had a similar condition, characterized by difficulty in speaking which started when she was 62 years old and progressed to anarthria. Cranial magnetic resonance showed the presence of cerebellar atrophy with no signs of atrophy of the brainstem. On electromyographic studies there were no signs of neuropathy. Visual, auditory and sensory evoked potentials were normal. Genetic studies showed expansion of trinucleotide CTG (112 repetitions in the expanded allele and 28 repetitions in the normal allele) on the gene responsible for SCA8., Conclusion: SCA8 should be included in the differential diagnosis of progressive cerebellar syndromes, especially when changes in speech predominate with regard to other cerebellar signs.