Search

Resumen Objetivos Caracterizar a los pacientes con trastornos del movimiento (TM) que reportaron el uso de preparados no farmaceuticos no estandarizados de cannabis (NF-C) en un centro especializado en movimientos anormales. Evaluar la relacion entre NF-C, respuesta terapeutica y sintomas asociados al uso (SAU). Material y metodos Cohorte retrospectiva de pacientes ≥ 21 anos que reportasen uso de NF-C en forma de: aceite (37), cigarrillo (2), tintura (1), entre junio 2017 y junio 2018. Fueron analizados datos demograficos, comorbilidades y caracteristicas clinicas. Se recabaron datos subjetivos con respecto a SAU. Resultados La muestra se compuso de 40 pacientes, 67,5%(N = 27) sexo masculino. Edad media al inicio de NF-C 64,08 ± 14,07 (IC95%: 59,52-68,64) con mediana de dias de consumo de 34,5 (21-90). El 67,5% (N = 27) tenian diagnostico de enfermedad de Parkinson. El 55% (N = 22) desconocian el motivo de inicio de NF-C. El 80% (N = 32) reportaron no haber presentado mejoria con NF-C. La frecuencia de SAU fue del 52,5% (N = 21). No se observaron diferencias significativas entre el diagnostico de TM con respecto al tipo de NF-C, respuesta con NF-C y SAU. Conclusion El uso de cannabis medicinal en TM es controvertido. Mas aun, indicar NF-C supone un riesgo no del todo categorizado en pacientes con TM. Nuestra cohorte denota los potenciales riesgos del uso de NF-C en un pool de pacientes con diversos TM.

Background Huntington's disease (HD) is a neurodegenerative disorder that includes motor, psychiatric and cognitive manifestations with typical onset of symptoms is in the forties. A percentage of patients (4.4% - 11.5%) may be exceptions to this and manifest symptoms later (>60 years old). Diagnosis of Late onset HD (LoHD) can be a challenge, due to the low suspicion of the disease at this age. Objective To review the genotype and phenotype of LoHD in an Argentinian cohort. Methods We reviewed the medical records and genetic testing of a total of 95 individuals with clinical and molecular diagnosis of Huntington's disease, based on 2 institution's registry. Results Among our HD cohort, 10 patients (10.52%) had LoHD, with variable results regarding family history. The average of repetitions of the expanded allele was 40 (range 38-44). All cases had mild motor symptoms at onset. Conclusions Late onset HD can be a diagnostic challenge, due to its slow progression, unawareness of manifestations among patients and in many cases, mild symptomatology that does not warrant medical attention.

Introduction Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). Objective to report a new PSEN1 mutation characterized by early-onset Parkinsonism (EOPD) without dementia or classical AD biomarkers phenotype. Patient and methods An Argentinian 46 years old woman was diagnosed with EOPD at 35 years old with no family history of neurodegenerative disorders. Her medical history included iron deficiency and anemia since childhood. A brain MRI showed moderate frontal atrophy. 18FDG-PET and PiB-PET as well as CSF biomarkers were inconclusive for AD. Two neuropsychological examinations were compatible with a mild non amnestic cognitive impairment. Whole blood DNA was extracted and whole exome sequencing and analysis was performed. Results and conclusion A heterozygous novel missense PSEN1 mutation (position 14:73637540, A > T, pArg41Ser) was identified as a likely causative mutation in this patient. To the best of our knowledge, this case is the first PSEN1 mutation with a l -dopa responsive Parkinsonism lacking distinctive classical AD biomarkers. This case opens a new window to explore the pathophysiological link among PSEN1 and EOPDs and contributes to increase the phenotypes of PSEN1 variants.