摩洛哥患者亨廷顿病的临床和遗传数据。
Clinical and genetic data of Huntington disease in Moroccan patients.
作者信息
Bouhouche Ahmed, Regragui Wafaa, Lamghari Hind, Khaldi Khadija, Birouk Nazha, Lytim Safaa, Bellamine Soufiane, Kriouile Yamna, Bouslam Naima, Haddou El Hachmia Ait Ben, Faris Mustapha Alaoui, Benomar Ali, Yahyaoui Mohamed
机构信息
Equipe de Recherche sur les Maladies Neurodégénératives, Faculté de Médecine et de Pharmacie, Université Mohammed V de Rabat, Morocco; Service de Neurologie et de Neurogénétique, Hôpital des Spécialités de Rabat, Morocco.
Centre de diagnostic polyvalent, Salé, Morocco.
出版信息
Afr Health Sci. 2015 Dec;15(4):1232-8. doi: 10.4314/ahs.v15i4.23.
BACKGROUND
Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin.
METHODS
Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics.
RESULTS
Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754).
CONCLUSION
Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.
背景
亨廷顿舞蹈症（HD）在全球范围内均有发生，其患病率因种族不同而在0.1至10/100,000之间波动。由于目前尚无关于马格里布人群的相关数据，本研究旨在描述摩洛哥裔亨廷顿舞蹈症患者的临床和遗传特征。
方法
对2009年至2014年期间从六个医疗中心的门诊连续招募的21例患者的临床和遗传学数据进行分析。采用描述性统计进行统计分析。
结果
来自17个家庭的21例患者被诊断为IT15基因CAG扩增阳性。临床症状主要为运动症状（19/21）。12例患者有精神和行为障碍，11例患者有主要为记忆障碍的认知障碍。基因结果分析显示，5例患者具有低外显率（RP）等位基因，16例具有完全外显率（FP）等位基因。RP等位基因患者的平均CAG重复长度为38.4±0.54，FP等位基因患者为45.37±8.30。发病年龄与CAG重复长度大小呈显著负相关（p<0.001，r = -0.754）。
结论
摩洛哥患者的临床和遗传数据与文献中先前报道的白种人群的数据相似。
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