Parkinson Disease and Complex Parkinsonism

Gene: SPR

Green List (high evidence)

Biallelic mutations cause early onset dopa-responsive dystonia, delayed psychomotor development SPR encodes for a component of the tetrahydrobiopterin (BH4) synthetic pathway. SPR biallelic mutations result ultimately in dopamine and serotonin deficiencies in the central nervous system, causing neurologic deterioration. PMID 22522443 (review of all pt reported: in infancy or childhood most common features included motor and language delay, axial hypotonia, dystonia, weakness, oculogyric crises, and diurnal fluctuation of symptoms with sleep benefit. Common features include dysarthria, parkinsonism, hyperreflexia, autonomic signs, sleep disturbances, and psychiatric/behavioral abnormalities. High variability in the presentation and severity of symptoms. TREATABLE L-dopa in combina-tion with a peripheral decarboxylase inhibitor or with 5-hydroxytrypto-phan (5-HTP)/carbidopa. Keep this gene in both this gene to both the dystonia panel and pd?

Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Also green on the Early onset dystonia gene panel, Version 1.0. With relation to dopa-responsive dystonia, the publication provided states "Later in the course of the disease, parkinsonian features may occur and may, in rare cases, be the only sign of the condition". Therefore should be included on this panel.

Created: 2 Nov 2016, 3:42 p.m.

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 11:34 a.m.