Novel Aspects of Hereditary Spastic Paraplegia: A Clinicopathologic and Biochemical Study of a Patient With a Heterozygous <i>GCH1</i> Variant

The authors declare no conflicts of interest. The datasets used and analysed during the present study are available from the corresponding author on reasonable request. Figure S1 Schematic diagram of the GCH1-related biosynthetic pathway. Figure S2 Neuropathological findings in the motor system and nigrostriatal system. Figure S3 GCH1 protein expression in the substantia nigra and putamen. Figure S4 Biochemical analysis of GCH1-related metabolites and monoamines in the putamen. Table S1 Primary antibodies. Table S2 Demographics and clinical features of previously reported patients with HSP-GCH1. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.