Remarkable Clinical Improvement with Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Lesch–Nyhan Disease: Five-Year Follow-Up

Conceptualizing the neurobiology of non-suicidal self-injury from the perspective of the Research Domain Criteria Project

“…As an example, deep brain stimulation of the globus pallidus internus, a basal ganglia region involved in movement, learning, and habit development, in an adult patient with Lesch-Nyhan disease (a disorder associated with severe NSSI), was found to eliminate NSSI (Piedimonte et al, 2015). An additional case study of deep brain stimulation of the globus pallidus in a 15-year-old with Lesch-Nyhan disease also found a dramatic reduction in NSSI following treatment (Abel et al, 2014).…”

Lesch-Nyhan Syndrome: Models, Theories, and Therapies

“…This was further examined by selective discontinuation of stimulation in either of the regions, which resulted in resurgence of the self-mutilation and dystonia after several days, showing that the improvements were a direct result of the GPi stimulation, and the motor and behavioral deficits of LNS are mediated through different circuits, both involving the GPi. Similarly, Deon et al [2012] and Piedimonte et al [2015] were successful in controlling patients' motor and behavioral dysfunction through bilateral stimulation of GPi using single electrodes on each side of the brain. An interesting finding was observed in a patient studied by Abel et al [2014] when a technical problem arose.…”

Combined Dystonia With Self‐Mutilation in 6‐Pyruvoyl‐Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report

“…Pharmacological trials support this hypothesis . Additionally, there are reports of improvement in dystonia and self‐mutilation with bilateral stimulation of the globus pallidus internus (GPi) in LNS, which indicates that self‐injurious behavior may be related to basal ganglia dysfunction …”

“…Self‐mutilation therapy includes different approaches, such as behavioral therapy, several drugs, and DBS . It is difficult to say which one might be the most effective in this case, but in view of its efficacy in other disorders for both dystonia and self‐mutilation, GPi‐DBS might be an option to consider.…”

“…7 Additionally, there are reports of improvement in dystonia and self-mutilation with bilateral stimulation of the globus pallidus internus (GPi) in LNS, which indicates that selfinjurious behavior may be related to basal ganglia dysfunction. 8 ChAc is caused by VPS13A gene mutations on chromosome 9, which normally codes for chorein, located in the dense-core vesicles where DA is also stored. Chorein is decreased in ChAc and involved in potassium-induced DA release, affecting striatal dopamine levels.…”