Ahmed Bouhouche1, Wafaa Regragui1, Hind Lamghari2, Khadija Khaldi3, Nazha Birouk4, Safaa Lytim5, Soufiane Bellamine6, Yamna Kriouile7, Naima Bouslam5, El Hachmia Ait Ben Haddou1, Mustapha Alaoui Faris6, Ali Benomar1, Mohamed Yahyaoui1. 1. 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. 2. Centre de diagnostic polyvalent, Salé, Morocco. 3. Centre de diagnostic, CHP, Rabat, Morocco. 4. Service de Neurophysiologie clinique, Hôpital des Spécialités de Rabat, Morocco. 5. Service de Neurologie et de Neurogénétique, Hôpital des Spécialités de Rabat, Morocco. 6. Service de Neurologie et de Neuropsychologie, Hôpital des Spécialités de Rabat, Morocco. 7. Service de Pédiatrie, Hôpital d'enfant, Rabat, Morocco.
Abstract
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.
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 Huntingtonpatients 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.
Authors: M Kaye Trembath; Zoë A Horton; Lynette Tippett; Virginia Hogg; Veronica R Collins; Andrew Churchyard; Dennis Velakoulis; Richard Roxburgh; Martin B Delatycki Journal: Mov Disord Date: 2010-07-30 Impact factor: 10.338
Authors: Nancy S Wexler; Judith Lorimer; Julie Porter; Fidela Gomez; Carol Moskowitz; Edith Shackell; Karen Marder; Graciela Penchaszadeh; Simone A Roberts; Javier Gayán; Denise Brocklebank; Stacey S Cherny; Lon R Cardon; Jacqueline Gray; Stephen R Dlouhy; Sandra Wiktorski; Marion E Hodes; P Michael Conneally; Jack B Penney; James Gusella; Jang-Ho Cha; Michael Irizarry; Diana Rosas; Steven Hersch; Zane Hollingsworth; Marcy MacDonald; Anne B Young; J Michael Andresen; David E Housman; Margot Mieja De Young; Ernesto Bonilla; Theresa Stillings; Americo Negrette; S Robert Snodgrass; Maria Dolores Martinez-Jaurrieta; Maria A Ramos-Arroyo; Jacqueline Bickham; Juan Sanchez Ramos; Frederick Marshall; Ira Shoulson; Gustavo J Rey; Andrew Feigin; Norman Arnheim; Amarilis Acevedo-Cruz; Leticia Acosta; Jose Alvir; Kenneth Fischbeck; Leslie M Thompson; Angela Young; Leon Dure; Christopher J O'Brien; Jane Paulsen; Adam Brickman; Denise Krch; Shelley Peery; Penelope Hogarth; Donald S Higgins; Bernhard Landwehrmeyer Journal: Proc Natl Acad Sci U S A Date: 2004-03-01 Impact factor: 11.205