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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

Genes - 13 Sept 2024

Akram Rabia, Anwar Haseeb, Muzaffar Humaira, Turchetti Valentina, Lau Tracy, Vona Barbara, Makhdoom Ehtisham Ul Haq, Iqbal Javed, Mahmood Baig Shahid, Hussain Ghulam, Efthymiou Stephanie, Houlden Henry

Abstract excerpt

Background and objectives: Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity and lower limb weakness. Spastic paraplegia 75 (SPG75) results from a mutation in the gene that encodes myelin associated glycoprotein (MAG). Only a limited number of MAG variants associated with SPG75 in families of European,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39336794
DOI: 10.3390/genes15091203
PMCID: PMC11431006

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