RESUMO
Bi-allelic variants in peroxiredoxin 3 (PRDX3) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported PRDX3 variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent-onset pure and complex cerebellar ataxia.
Assuntos
Ataxia Cerebelar , Ataxias Espinocerebelares , Degenerações Espinocerebelares , Adolescente , Humanos , Criança , Ataxia Cerebelar/diagnóstico por imagem , Ataxia Cerebelar/genética , Peroxirredoxina III , Degenerações Espinocerebelares/genética , Ataxias Espinocerebelares/genética , AlelosRESUMO
BACKGROUND: Pain is a common symptom in Parkinson disease (PD). OBJECTIVES: To analyze the relationship between pain and motor dysfunction in individuals with PD. METHODS: Fifty-four individuals with PD were screened: Hoehn and Yahr scale score = 2.5 (1 to 4); median (range) age in the "on" period of anti-Parkinson medication was 66 (44 to 85) years. Pain was assessed using King's Parkinson's Disease Pain Scale (KPPS) and the Brief Pain Inventory (BPI). Performance in routine activities and motor function were assessed using Unified Parkinson Disease Rating Scale (UPDRS II and III); gait was assessed using the Dynamic Gait Index; and balance was assessed using the Mini-BESTest. RESULTS: Thirty-eight participants (70.3%) reported mild to moderate pain. A positive correlation was found between the total KPPS score and performance in general activities (UPDRS II) (rho = 0.29, P = 0.04); a negative correlation was found between pain intensity (BPI intensity) and motor function (UPDRS III; rho = -0.28, P = 0.04); and a negative correlation was found between pain intensity (BPI intensity) and the bradykinesia subscore of the UPDRS III (rho = -0.29, P = 0.04). There was no correlation between pain and gait performance or balance. The musculoskeletal pain was the predominant type (in 81.5% of subjects), followed by nocturnal pain (52.6%) and fluctuation-related pain (47.3%). The most painful areas were lower limbs (33.0%) and shoulders/cervical area (31.0%). Twenty-one of 38 participants (55.3%) reported pain interference in their working and walking ability and general activities. CONCLUSIONS: Pain was weakly correlated with performance in general activities and with bradykinesia but was not correlated with the remaining classic motor PD symptoms, either gait or balance performance. Pain was a prevalent symptom in the present sample, and the individuals reported its interference with functionality.
Assuntos
Transtornos Motores , Dor , Doença de Parkinson , Idoso , Estudos Transversais , Feminino , Marcha , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora , Medição da DorRESUMO
BACKGROUND: Obesity is related to obstructive sleep apnea-hypopnea syndrome (OSAHS), but its roles in OSAHS as cause or consequence are not fully clarified. Isocapnic intermittent hypoxia (IIH) is a model of OSAHS. We verified the effect of IIH on body weight and brown adipose tissue (BAT) of Wistar rats. METHODS: Nine-month-old male breeders Wistar rats of two groups were studied: 8 rats submitted to IIH and 5 control rats submitted to sham IIH. The rats were weighed at the baseline and at the end of three weeks, after being placed in the IIH apparatus seven days per week, eight hours a day, in the lights on period, simulating an apnea index of 30/hour. After experimental period, the animals were weighed and measured as well as the BAT, abdominal, perirenal, and epididymal fat, the heart, and the gastrocnemius muscle. RESULTS: Body weight of the hypoxia group decreased 17 +/- 7 grams, significantly different from the variation observed in the control group (p = 0,001). The BAT was 15% lighter in the hypoxia group and reached marginally the alpha error probability (p = 0.054). CONCLUSION: Our preliminary results justify a larger study for a longer time in order to confirm the effect of isocapnic intermittent hypoxia on body weight and BAT.