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Article

GCH1 mutations in hereditary spastic paraplegia.

Clinical genetics - 1 Jul 2021

Varghaei Parizad, Yoon Grace, Estiar Mehrdad A, Veyron Simon, Leveille Etienne, Dupré Nicolas, Trempe Jean-François, Rouleau Guy A, Gan-Or Ziv

Abstract excerpt

GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4 )-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...

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PMID: 33713342
DOI: 10.1111/cge.13955

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