Fatima Zahra Bouzid
Genetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco
Maria Mansouri
Genetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco
Chaikhy Abdelaziz
Private Ophthalmology Practice Agadir, Agadir, Maroc
Nisrine Louhab
School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco; Neurology Department, University Hospital Centre Mohammed VI, Marrakech, Morocco
Sablonniere Bernard
Biochemistry and Molecular Biology Pole, Department of Neurobiology Biology Pathology Center, Lille University Hospital, Lille, French
Isabelle Strubi-Vuillaume
Neurology Department, University Hospital Centre Mohammed VI, Marrakech, Morocco
Kenza Dafir
Genetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco
Nisrine Aboussair
Genetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco; School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco
Abstract
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. We report in this study the clinical and genetic features of a new Moroccan family of SCA7, from the South of Morocco. We performed the molecular genetic testing to confirm the diagnosis of SCA7. The objective of this study is to report a new Moroccan case of SCA7 and to illustrate the role of the geneticist in the diagnosis, management and development of genetic counseling of SCA7 disease.
