Malek Naveed, Swallow Diane M A, Grosset Katherine A, Lawton Michael A, Marrinan Sarah L, Lehn Alexander C, Bresner Catherine, Bajaj Nin, Barker Roger A, Ben-Shlomo Yoav, Burn David J, Foltynie Thomas, Hardy John, Morris Huw R, Williams Nigel M, Wood Nicholas, Grosset Donald G
Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.
School of Social and Community Medicine, University of Bristol, Bristol, UK.
J Parkinsons Dis. 2015;5(4):947-59. doi: 10.3233/JPD-150662.
There is wide variation in the phenotypic expression of Parkinson's disease (PD), which is driven by both genetic and epidemiological influences.
To define and explain variation in the clinical phenotype of PD, in relation to genotypic variation.
Tracking Parkinson's is a multicentre prospective longitudinal epidemiologic and biomarker study of PD. Patients attending specialist clinics in the United Kingdom with recent onset (<3.5 years) and young onset (diagnosed <50 years of age) PD were enrolled. Motor, non-motor and quality of life assessments were performed using validated scales. Cases are followed up 6 monthly up to 4.5 years for recent onset PD, and up to 1 year for young onset PD. We present here baseline clinical data from this large and demographically representative cohort.
2247 PD cases were recruited (1987 recent onset, 260 young onset). Recent onset cases had a mean (standard deviation, SD) age of 67.6 years (9.3) at study entry, 65.7% males, with disease duration 1.3 years (0.9), MDS-UPDRS 3 scores 22.9 (12.3), LEDD 295 mg/day (211) and PDQ-8 score 5.9 (4.8). Young onset cases were 53.5 years old (7.8) at study entry, 66.9% male, with disease duration 10.2 years (6.7), MDS-UPDRS 3 scores 27.4 (15.3), LEDD 926 mg/day (567) and PDQ-8 score 11.6 (6.1).
We have established a large clinical PD cohort, consisting of young onset and recent onset cases, which is designed to evaluate variation in clinical expression, in relation to genetic influences, and which offers a platform for future imaging and biomarker research.
帕金森病(PD)的表型表达存在广泛差异,这是由遗传和流行病学影响共同驱动的。
根据基因型变异定义并解释PD临床表型的差异。
“追踪帕金森病”是一项关于PD的多中心前瞻性纵向流行病学和生物标志物研究。招募了在英国专科诊所就诊的近期发病(<3.5年)和早发(诊断时<50岁)的PD患者。使用经过验证的量表进行运动、非运动和生活质量评估。对于近期发病的PD患者,每6个月随访一次,最长随访4.5年;对于早发PD患者,最长随访1年。我们在此展示了这个规模大且具有人口统计学代表性的队列的基线临床数据。
共招募了2247例PD患者(1987例近期发病,260例早发)。近期发病患者入组时的平均(标准差,SD)年龄为67.6岁(9.3),男性占65.7%,病程1.3年(0.9),MDS-UPDRS 3评分22.9(12.3),左旋多巴等效剂量(LEDD)295毫克/天(211),PDQ-8评分5.9(4.8)。早发患者入组时年龄为53.5岁(7.8),男性占66.9%,病程10.2年(6.7),MDS-UPDRS 3评分27.4(15.3),LEDD 926毫克/天(567),PDQ-8评分11.6(6.1)。
我们建立了一个大型临床PD队列,包括早发和近期发病的病例,旨在评估与遗传影响相关的临床表达差异,并为未来的影像学和生物标志物研究提供一个平台。