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Article

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

Journal of the neurological sciences - 15 Apr 2020

Bibi Farah, Efthymiou Stephanie, Bourinaris Thomas, Tariq Ambreen, Zafar Faisal, Rana Nouzhat, Salpietro Vincenzo, Houlden Henry, Raja Ghazala Kaukab, Saeed Sadia, Minhas Nasir Mahmood

Abstract excerpt

BAKGROUND: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP. METHODS: Whole exome sequencing (WES) was performed in the two...

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PMID: 32006740
DOI: 10.1016/j.jns.2020.116669

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