The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients.

Background: The diagnosis of the behavioral variant of frontotemporal dementia (bvFTD) can be especially challenging and is relatively underdiagnosed. There is scarce information on training and attitudes from care providers facing bvFTD in settings with limited resources. We aim to describe clinical knowledge and attitudes facing bvFTD from neurologists, psychiatrists, and residents in Peru.Methods: Potential participants received invitations by email to complete an online questionnaire. In addition, we reviewed 21 curricula from undergraduate medical schools' programs offered by the main schools of medicine in Peru during 2020 and 2021.Results: A total of 145 participants completed the survey. The responders were neurologists (51%), psychiatrists (25%), and residents in neurology or psychiatry (24%). Only 26% of the respondents acknowledged receiving at least one class on bvFTD in undergraduate medical training, but 66.6% received at least some training during postgraduate study. Participants identified isolated supportive symptoms for bvFTD; however, only 25% identified the possible criteria and 18% the probable bvFTD criteria. They identified MoCA in 44% and Frontal Assessment Battery (39%) as the most frequently used screening test to assess bvFTD patients. Memantine and Acetylcholinesterase inhibitors were incorrectly indicated by 40.8% of participants. Seventy six percentage of participants indicated that they did not provide education and support to the caregiver. The dementia topic was available on 95.2%, but FTD in only 19%.Conclusion: Neuropsychiatry medical specialists in Peru receive limited training in FTD. Their clinical attitudes for treating bvFTD require appropriate training focused on diagnostic criteria, assessment tools, and pharmacological and non-pharmacological management.

BackgroundGuillain–Barre Syndrome (GBS) is considered a complex disorder with significant environmental effect and genetic susceptibility. Genetic polymorphisms in CD1E, CD1A, IL‐17, and/or ICAM1 had been proposed as susceptibility genetic variants for GBS mainly in Caucasian population. This study explores the association between selected polymorphisms in these genes and GBS susceptibility in confirmed GBS cases reported in mestizo population from northern Peru during the most recent GBS outbreak of May 2018.MethodsA total of nine nonrelated cases and 11 controls were sequenced for the polymorphic regions of CD1A, CD1E, IL‐17, and ICAM1.ResultsWe found a significant protective association between heterozygous GA genotype in ICAM1 (241Gly/Arg) and GBS (p < .047). IL‐17 was monomorphic in both controls and patients. No significant differences were found in the frequency of SNPs in CD1A and CD1E between the group with GBS patients and healthy controls.ConclusionICAM1 polymorphisms might be considered as potential genetic markers of GBS susceptibility. Further studies with larger sample size will be required to validate these findings.

Introducción. La enfermedad de Parkinson (EP) es un trastorno neurodegenerativo común, el segundo más frecuente después de la enfermedad de Alzheimer. La mutación A53T en el gen SNCA, fue la primera identificada en asociación con EP. La mayoría de casos de EP en familias con esta mutación provienen de regiones cercanas al lugar del descubrimiento original. Objetivos: Evaluar la presencia de la mutación A53T en el gen SNCA en una muestra peruana de casos con EP de incidencia familiar, esporádicos y controles sanos. Material y Métodos: Se analizaron, mediante la técnica de PCR-RFLP, las muestras de ADN de 34 casos con EP esporádico, 7 casos de EP familiar y 32 individuos control. Resultados: No se encontró la mutación A53T en la muestra analizada, por lo que se infiere que ella estaría confinada a pocas familias de origen caucásico (europeo) asociadas a aquéllas con los casos originalmente descritos. Conclusiones: La mutación A53T no sería un factor causal o primario de EP en los casos evaluados.

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