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Abstract Details

GCH1 Mutations in Hereditary Spastic Paraplegia
Movement Disorders
Movement Disorders Posters (7:00 AM-5:00 PM)
092
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Mutations in GCH1 have been associated with dopa-responsive dystonia (DRD), Parkinson’s disease (PD), and hyperphenylalaninemia B. More recently, these mutations have been reported in patients diagnosed with hereditary spastic paraplegia (HSP).

Whole exome sequencing (WES) was carried out in 400 HSP patients from 291 families. 

Three HSP patients were identified to have GCH1 mutations: one patient with a p.(Val205Glu) mutation, and monozygotic twins with a p.(Ser77_Leu82del) mutation. All patients presented with spasticity of the lower limbs at childhood, abnormal plantar responses, and hyperreflexia. None of the patients had dystonia or parkinsonism, and only one had diurnal fluctuation of symptoms. The monozygotic twins showed clinical differences, and they had a significant response to levodopa treatment.

GCH1 mutations could cause HSP; thus, including GCH1 in the HSP genes screening panels may be of benefit. Phenotypic differences between the monozygotic twins suggest the role that environmental factors could play in the presentation of the disease.

Authors/Disclosures
Parizad Varghaei, MD (University of Ottawa)
PRESENTER 		Parizad Varghaei has nothing to disclose.
Grace Yoon, MD Dr. Yoon has nothing to disclose.
No disclosure on file
Nicolas Dupre, MD, FÂ鶹´«Ã½Ó³»­ (CHU de Quebec - U Laval) Dr. Dupre has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Akcea Therapeutics Canada. The institution of Dr. Dupre has received research support from ARSACS Foundation. The institution of Dr. Dupre has received research support from CHUdeQuebec Foundation.
Guy A. Rouleau, MD, PhD, FÂ鶹´«Ã½Ó³»­ (Montreal Neurological Institute and Hospital) Dr. Rouleau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for NovoNordisk. Dr. Rouleau has received personal compensation in the range of $5,000-$9,999 for serving as an officer or member of the Board of Directors for AL-S Pharma.
Ziv Gan-Or, MD, PhD (McGill University) Dr. Gan-Or has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neuron23. Dr. Gan-Or has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Idorsia. Dr. Gan-Or has received personal compensation in the range of $0-$499 for serving as a Consultant for Lighthouse. Dr. Gan-Or has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ono Therapeutics. Dr. Gan-Or has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Gan-Or has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Handl Therapeutics. Dr. Gan-Or has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bial Biotech.