MedElevator Войти в исследования
← Поиск публикаций

DOI 10.4314/ahs.v15i4.23

Медицинская библиотека · African health sciences · 2015

Clinical and genetic data of Huntington disease in Moroccan patients.

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

СтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: 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. Clinical and genetic data of Huntington disease in Moroccan patients.. African health sciences. 2015. DOI: 10.4314/ahs.v15i4.23.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.