Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome

Area of Science:

• Neurology
• Genetics
• Ophthalmology

Background:

• Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing vision loss.
• LHON-plus involves additional neurological symptoms like tremors or dystonia.
• Essential tremor is a common movement disorder, often refractory to medication.

Observation:

• A 53-year-old man with essential tremor refractory to medication was diagnosed with LHON-plus after vision loss and genetic testing.
• He underwent bilateral deep brain stimulation (DBS) targeting the ventral intermediate nucleus of the thalamus.
• The patient experienced significant symptom improvement following DBS.

Findings:

• This is the first reported case of essential tremor in the context of LHON-plus successfully treated with DBS.
• Previous attempts of DBS for LHON-plus with dystonia showed limited success.
• The study highlights the potential efficacy of DBS for specific neurological manifestations of LHON-plus.

Implications:

• Deep brain stimulation (DBS) may be a viable therapeutic option for essential tremor associated with LHON-plus.
• Further research is warranted to explore the broader application and long-term outcomes of DBS in LHON-plus patients.
• This case expands treatment possibilities for complex neurological presentations of mitochondrial disorders.