Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset

Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or parkinsonism only decades later.

Source: Parkinsonism and Related Disorders - March 31, 2020 Category: Neurology Authors: Tessa Wassenberg, Meyke I. Schouten, Rick C. Helmich, Mich èl A.A.P. Willemsen, Erik-Jan Kamsteeg, Bart P.C. van de Warrenburg Tags: Short communication Source Type: research