Ontology highlight
ABSTRACT:
SUBMITTER: Saadi SM
PROVIDER: S-EPMC10379343 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Saadi Saadia Maryam SM Cali Elisa E Khalid Lubaba Bintee LB Yousaf Hammad H Zafar Ghazala G Khan Haq Nawaz HN Sher Muhammad M Vona Barbara B Abdullah Uzma U Malik Naveed Altaf NA Klar Joakim J Efthymiou Stephanie S Dahl Niklas N Houlden Henry H Toft Mathias M Baig Shahid Mahmood SM Fatima Ambrin A Iqbal Zafar Z
Genes 20230706 7
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have ...[more]