From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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DOI：
10.1186/s13023-018-0898-z
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发表时间：
2018-09-19
影响因子：
3.7
通讯作者：
Mathieu J
中科院分区：
文献类型：
--
作者：
Gagnon C;Brais B;Lessard I;Lavoie C;Côté I;Mathieu J
常染色体隐性夏勒瓦-萨格奈痉挛性共济失调 (ARSACS) 是一种隐性神经系统疾病，具有小脑、锥体和神经病变特征。迫切需要自然历史数据来提高试验准备情况。本研究旨在描述 c.8844delT 突变 ARSACS 纯合子成人中观察到的临床表型，包括敏捷性、协调性、力量、活动性、平衡性、疾病严重程度、参与度和生活质量。横断面研究，比较疾病阶段和参考值。结果测量包括标准化指鼻测试、握力/捏力、LEMOCOT、六分钟步行测试、10 米步行测试、Berg 平衡量表、痉挛性截瘫评定量表、共济失调评估和评级量表、LIFE-H 和 SF-12。招募了 28 名参与者，平均年龄为 38.1 岁。与参考值相比，大多数人的下肢协调性和精细灵活性得分低于三个标准差，得分低于活动测量的预测值，并且跌倒的风险增加。疾病早期阶段的参与者表现优于其他人，但观察到个体差异。结果显示，运动表现总体受损，即使在遗传同质的 ARSACS 群体中，疾病阶段也存在个体差异。这项研究为使用量化测量的纵向研究奠定了基础。
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study aimed to describe the clinical phenotype including dexterity, coordination, strength, mobility, balance, disease severity, participation, and quality of life observed in adults with ARSACS homozygous for the c.8844delT mutation. Cross-sectional study with comparisons between disease stages and with reference values. Outcome measures included Standardized Finger-to-Nose Test, Grip/pinch strength, LEMOCOT, Six-Minute Walk Test, 10-Meter Walk Test, Berg Balance Scale, Spastic Paraplegia Rating Scale, Scale for the Assessment and Rating of Ataxia, LIFE-H, and SF-12. Twenty-eight participants were recruited with a mean age of 38.1 years. The majority presented with lower limb coordination and fine dexterity scores below three standard deviations compare to reference values, scored under predicted values for mobility measures and were at increased risk of fall. Participants at an earlier disease stage performed better than the others, but individual variability was observed. Results showed overall impaired motor performances and, even in a genetically homogeneous ARSACS population, an individual variability within disease stages. This study lays the foundation for a longitudinal study using quantified measurements.
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DOI：
10.1097/00004356-199806000-00002
发表时间：
1998-06-01
影响因子：
1.7
作者：
Fougeyrollas, P;Noreau, L;St-Michel, G
通讯作者：
St-Michel, G
影响因子：
3
作者：
BOUCHARD, JP;BARBEAU, A;BOUCHARD, RW
通讯作者：
BOUCHARD, RW
DOI：
10.1111/j.1749-6632.1988.tb31822.x
发表时间：
1988-06-01
影响因子：
5.2
作者：
PENN, RD
通讯作者：
PENN, RD
DOI：
10.1097/00008483-200103000-00005
发表时间：
2001-03-01
期刊：
Journal of cardiopulmonary rehabilitation
影响因子：
--
作者：
Gibbons, W J;Fruchter, N;Levy, R D
通讯作者：
Levy, R D
DOI：
10.1016/j.apmr.2014.03.006
发表时间：
2014-08-01
影响因子：
4.3
作者：
Pinheiro, Marina B.;Scianni, Aline A.;Teixeira-Salmela, Luci F.
通讯作者：
Teixeira-Salmela, Luci F.