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Spastic paraplegia-56 due to a novel CYP2U1 truncating mutation in an Indian boy: A new report and literature review

1 Jan 2021

Abstract excerpt

Spastic paraplegia-56 is a rare autosomal recessive disorder, caused by homozygous or compound heterozygous mutations in the CYP2U1 gene, located on chromosome 4. Till date, only 28 patients with this disorder have been reported in the literature. We report a new case of CYP2U1-related spastic paraplegia-56. We also reviewed previously published patients with this condition from various databases. Next-generation...

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PMID: 34316314
DOI: 10.4103/jpn.jpn_86_20

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