AANS Neurosurgeon | Volume 27, Number 3, 2018

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Collaboration Yields Possible Treatment for Rare Neurodegenerative Disorder

A discovery in bacteria and a hallway conversation led St. Jude Children’s Research Hospital scientists to a potential therapy for a debilitating childhood neurodegenerative disorder

St. Jude Children’s Research Hospital investigators have developed a new class of compounds that extended the lives and eased symptoms of mice with a progressive neurodegenerative human disorder. 

The rare, inherited disorder, pantothenate kinase-associated neurodegeneration (PKAN), affects up to three in a million individuals and is caused by mutations in the PANK2 gene. Iron accumulates in brain cells, and patients have difficulty walking, swallowing, chewing and performing other activities. There is no treatment.

PKAN is thought to occur when neurons lack an adequate supply of the molecule coenzyme A (CoA), preventing them from functioning normally. PANK2 is one of three closely related proteins (isoforms) that regulate CoA production.

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