Article

<i>GCH1</i>mutations in hereditary spastic paraplegia

2021-01-20

Abstract excerpt

GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson’s disease (PD) and tetrahydrobiopterin (BH 4 )-deficient hyperphenylalaninemia B. Recently, GCH1 mutations have been reported in five patients with hereditary spastic paraplegia (HSP). Here, we analyzed a total of 400 HSP patients (291 families) from different centers across Canada by whole exome sequencing (WES). Three patients wit...

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Literature Corpus work: 63e00e26-d70e-55bc-b00d-2e070ccab65e
DOI: 10.1101/2021.01.14.21249305

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