variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.

Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify as a new gene implicated in PD and childhood neurodegeneration.

Drug induced intracranial hypertension associated with sulphasalazine treatment.

A 25-year-old female patient developed headache and papilledema under sulphasalazine treatment for ulcerative colitis. The patient met the International Headache Society's criteria for idiopathic intracranial hypertension. Sulphasalazine was discontinued and the patient was given azathioprine for ulcerative colitis and acetazolamide for intracranial hypertension.