Abstract：
UNASSIGNED: Hereditary Ataxias (HAs) comprise a wide spectrum of genetically determined neurodegenerative diseases with progressive ataxia as the main symptom. Few studies have evaluated nutritional profile in HA patients and most of these focused on specific ataxia subtypes. The objectives of this study were: (1) to investigate whether hereditary ataxias were associated with changes in energy expenditure, body composition and dietary intake; (2) to verify differences in these variables according to ataxia subtype, sex, age, and disease severity.
UNASSIGNED: Thirty-eight hereditary ataxia patients from two neurology centers in Northeastern Brazil and 38 controls were evaluated. Body composition was assessed with bio-impedance analysis and dietary intake was estimated with a validated questionnaire (24-hour dietary recall).
UNASSIGNED: Mean body mass index (BMI) was lower in HA compared to controls (p = 0.032). Hereditary ataxia patients showed lower protein intake, higher frequency of dysphagia and higher incidence of nausea and diarrhea. The difference in average estimated caloric intake did not reach statistical significance (2359kcal ± 622 in patients × 2713kcal ± 804 in controls, p = 0.08). Disease severity measured by the SARA scale was not associated with BMI, nor was ataxia subtype (autosomal dominant × non-autosomal dominant ataxias).
UNASSIGNED: Hereditary ataxia patients have lower BMI compared to healthy controls. There was no difference in this cohort between dominant or non-dominant ataxia regarding BMI. Weight loss may be a common finding among hereditary ataxias and may affect the quality of life in these patients.
UNASSIGNED: Thirty-eight hereditary ataxia patients from two neurology centers in Northeastern Brazil and 38 controls were evaluated. Body composition was assessed with bio-impedance analysis and dietary intake was estimated with a validated questionnaire (24-hour dietary recall).
UNASSIGNED: Mean body mass index (BMI) was lower in HA compared to controls (p = 0.032). Hereditary ataxia patients showed lower protein intake, higher frequency of dysphagia and higher incidence of nausea and diarrhea. The difference in average estimated caloric intake did not reach statistical significance (2359kcal ± 622 in patients × 2713kcal ± 804 in controls, p = 0.08). Disease severity measured by the SARA scale was not associated with BMI, nor was ataxia subtype (autosomal dominant × non-autosomal dominant ataxias).
UNASSIGNED: Hereditary ataxia patients have lower BMI compared to healthy controls. There was no difference in this cohort between dominant or non-dominant ataxia regarding BMI. Weight loss may be a common finding among hereditary ataxias and may affect the quality of life in these patients.
摘要：
■遗传性共济失调(HAs)包括广泛的遗传决定的神经退行性疾病,以进行性共济失调为主要症状。很少有研究评估HA患者的营养状况，其中大多数都集中在特定的共济失调亚型上。本研究的目的是：（1）调查遗传性共济失调是否与能量消耗的变化有关，身体成分和饮食摄入量；（2）根据共济失调亚型验证这些变量的差异，性别,年龄,和疾病的严重程度。
■对来自巴西东北部两个神经科中心的38名遗传性共济失调患者和38名对照组进行了评估。通过生物阻抗分析评估身体成分，并通过经过验证的问卷（24小时饮食回忆）估计饮食摄入量。
■与对照组相比，HA的平均体重指数（BMI）较低（p=0.032）。遗传性共济失调患者的蛋白质摄入量较低，吞咽困难的频率更高，恶心和腹泻的发生率更高。平均估计热量摄入的差异未达到统计学意义（患者为2359kcal±622×对照组为2713kcal±804，p=0.08)。SARA量表测量的疾病严重程度与BMI无关，也不是共济失调亚型（常染色体显性×非常染色体显性共济失调）。
■遗传性共济失调患者的BMI低于健康对照组。在此队列中，显性或非显性共济失调的BMI没有差异。体重减轻可能是遗传性共济失调的常见发现，并可能影响这些患者的生活质量。
■对来自巴西东北部两个神经科中心的38名遗传性共济失调患者和38名对照组进行了评估。通过生物阻抗分析评估身体成分，并通过经过验证的问卷（24小时饮食回忆）估计饮食摄入量。
■与对照组相比，HA的平均体重指数（BMI）较低（p=0.032）。遗传性共济失调患者的蛋白质摄入量较低，吞咽困难的频率更高，恶心和腹泻的发生率更高。平均估计热量摄入的差异未达到统计学意义（患者为2359kcal±622×对照组为2713kcal±804，p=0.08)。SARA量表测量的疾病严重程度与BMI无关，也不是共济失调亚型（常染色体显性×非常染色体显性共济失调）。
■遗传性共济失调患者的BMI低于健康对照组。在此队列中，显性或非显性共济失调的BMI没有差异。体重减轻可能是遗传性共济失调的常见发现，并可能影响这些患者的生活质量。
