Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family

The Pan African Medical Journal

卷:38

Sablonniere Bernard¹  Isabelle Strubi-vuillaume²  Chaikhy Abdelaziz³  Nisrine Louhab⁴  Fatima Zahra Bouzid⁵  Maria Mansouri⁵  Nisrine Aboussair⁵  Kenza Dafir⁵ 

[1] Biochemistry and Molecular Biology Pole, Department of Neurobiology Biology Pathology Center, Lille University Hospital, Lille, French;

[2] Neurology Department, University Hospital Centre Mohammed VI, Marrakech, Marrakech, Morocco;

[3] Private Ophthalmology Practice Agadir, Agadir, Maroc;

[4] School of Medicine and Pharmacy of Marrakech, Cadi Ayyad University, Marrakech, Morocco;

[5] Genetics Department, Clinical Research Center, University Hospital Centre Mohammed VI, Marrakech, Morocco;

关键词: case report;    spinocerebellar ataxia type 7;    atxn7 gene;    cag repeats;   

DOI  :  10.11604/pamj.2021.38.162.27262

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown