Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).

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.

• Authors: Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussair
• Journal: The Pan African medical journal (Pan Afr Med J) Vol. 38 Pg. 162 ( 2021) ISSN: 1937-8688 [Electronic] Uganda
• PMID: 33995769 (Publication Type: Case Reports)
• Copyright: Copyright: Fatima Zahra Bouzid et al.

Chemical References

• ATXN7 protein, human
• Ataxin-7

Topics

• Adolescent
• Adult
• Ataxin-7 (genetics)
• Female
• Genetic Testing
• Humans
• Male
• Morocco
• Mutation
• Spinocerebellar Ataxias (diagnosis, genetics, physiopathology)
• Young Adult