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Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Genes - 6 Jul 2023

Saadi Saadia Maryam, Cali Elisa, Khalid Lubaba Bintee, Yousaf Hammad, Zafar Ghazala, Khan Haq Nawaz, Sher Muhammad, Vona Barbara, Abdullah Uzma, Malik Naveed Altaf, Klar Joakim, Efthymiou Stephanie, Dahl Niklas, Houlden Henry, Toft Mathias, Baig Shahid Mahmood, Fatima Ambrin, Iqbal Zafar

Abstract excerpt

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....

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PMID: 37510308
DOI: 10.3390/genes14071404
PMCID: PMC10379343

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