The Clinical Features and Progression of Late-Onset Versus Younger-Onset in an Adult Cohort of Huntington's Disease Patients.
The Clinical Features and Progression of Late-Onset Versus Younger-Onset in an Adult Cohort of Huntington's Disease Patients.
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DOI：
10.3233/jhd-200404
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发表时间：
2020
期刊：
影响因子：
--
通讯作者：
Barker RA
中科院分区：
文献类型：
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作者：
Anil M;Mason SL;Barker RA
亨廷顿舞蹈症 (HD) 是一种常染色体显性神经退行性疾病，通常在 30 至 50 岁之间出现。然而，这种疾病可以出现在任何年龄，并且年轻和晚发患者之间的表型差异受到的关注有限。比较晚期（>70 岁）和年轻发病（<30 岁）HD 患者的临床特征。将就诊于我们区域 NHS HD 诊所的年龄超过 70 岁 (LoHD) (n = 18) 的新发明显 HD 患者与年龄在 30 岁以下 (YoHD) (n = 12) 的年轻队列患者进行比较。比较了标准认知和运动测量随时间的进展率。首次临床表现时，两组的 UHDRS 总得分相同。然而，LoHD 组舞蹈病评分较高（F (1,28) = 6.52，p = 0.016），而 YoHD 组肌张力障碍较多（F (1,28) = 8.69，p = 0.006）和眼球运动异常（F (1,28) = 16.991， p < 0.001）。 YoHD 组的运动进展率也较高，尤其是延髓测量 (F (1, 28) = 6.96，p = 0.013) 和运动迟缓 (F (1, 28) = 7.99，p = 0.009)。各组之间的认知变化率（F（1,21） = 1.727，p = 0.203）和功能能力（F（1,28） = 1.388，p = 0.249）没有发现差异。 YoHD 和 LoHD 患者在初始表现和运动进展率方面存在表型差异。鉴于不同年龄的 HD 患者不同的临床特征和进展，这对涉及不同年龄 HD 患者的治疗试验具有重要意义。
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder that typically manifests between the ages of 30 and 50 years. However, the disease can present at any age, and phenotypic differences between younger and later-onset patients have received limited attention. To compare clinical features of late- (>70 years of age) and younger-onset (<30 years of age) HD patients. Patients presenting to our regional NHS HD clinic with new-onset manifest HD diagnosed over the age of 70 years (LoHD) (n = 18) were compared with a younger cohort who developed disease under the age of 30 years (YoHD) (n = 12). Rate of progression over time on standard cognitive and motor measures was compared. At first clinic presentation, both groups had the same total UHDRS scores. However, the LoHD group had higher chorea scores (F (1,28) = 6.52, p = 0.016), while the YoHD group had more dystonia (F (1,28) = 8.69, p = 0.006) and eye movement abnormalities (F (1,28) = 16.991, p < 0.001). The YoHD group also had a greater rate of motor progression, especially for bulbar measures (F (1, 28) = 6.96, p = 0.013) and bradykinesia (F (1, 28) = 7.99, p = 0.009). No differences were found in the rate of cognitive change (F (1,21) = 1.727, p = 0.203) nor functional capacity (F (1,28) = 1.388, p = 0.249) between the groups. Phenotypic differences between YoHD and LoHD patients were found in terms of initial presentation and rate of motor progression. This has implications for therapeutic trials involving HD patients of different ages, given their different clinical features and progression.