ABSTRACT
Cognitive decline and behavioral changes are common features in amyotrophic lateral sclerosis (ALS) and imply worse prognosis as well as increased disease burden for patients and caregivers. Currently, there is a lack of studies regarding behavioral profile in Brazilian ALS cohorts. We assessed the prevalence and profile of behavioral impairment (ALSbi) in a Brazilian non-demented C9orf72-negative ALS cohort according to broad behavioral assessment and the latest consensus. Among 76 initially recruited consecutive ALS patients, 70 were included, including seven ALS type 8 (VAPB-related ALS) individuals. Patients with Frontotemporal Dementia (FTD) diagnosis were excluded. Sixteen ALS patients (23%) were diagnosed as ALSbi. Among ALS type 8 individuals, 2 (28.6%) were diagnosed as ALSbi. Neuropsychiatric Inventory Questionnaire (NPI) total scores did positively correlate with age, but not with other demographic or clinical data. Apathy was the most prevalent finding in the ALSbi subgroup, although the prevalence (20%) was smaller than reported in previous literature. Dysphoria and anxiety were also prevalent findings in the whole ALS cohort. Future studies with larger cohorts and validated ALS-specific tools are needed in order to expand our knowledge.
Subject(s)
Amyotrophic Lateral Sclerosis/metabolism , C9orf72 Protein/metabolism , Cognitive Dysfunction/metabolism , Frontotemporal Dementia/metabolism , Adult , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/genetics , Cognitive Dysfunction/genetics , Cohort Studies , Female , Frontotemporal Dementia/diagnosis , Humans , Male , Middle Aged , Vesicular Transport Proteins/metabolismABSTRACT
Whipple's disease (WD) is an uncommon multisystem condition caused by the bacillus Tropheryma whipplei. Central nervous system involvement is a classical feature of the disease observed in 20 to 40% of the patients. We report the case of a 62 year old man with WD that developed neurological manifestations during its course, and discuss the most usual signs and symptoms focusing on recent diagnostic criteria and novel treatment regimens.
Subject(s)
Brain Diseases/etiology , Whipple Disease/complications , Biopsy , Brain Diseases/diagnosis , Diarrhea/etiology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Polyneuropathies/diagnosis , Polyneuropathies/microbiology , Tomography, X-Ray Computed , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Whipple Disease/diagnosis , Whipple Disease/drug therapyABSTRACT
A doença de Whipple (DW) é distúrbio multissistêmico raro causado pelo bacilo Tropheryma whipplei. O envolvimento do sistema nervoso central é um aspecto clássico da doença, sendo observado em 20 a 40% dos pacientes. Relatamos o caso de homem de 62 anos com DW que desenvolveu manifestações neurológicas durante sua evolução, com o objetivo de discutir os sinais e sintomas mais comuns e destacar os critérios diagnósticos e propostas terapêuticas mais recentes.
