Objective: To describe the clinical response to deep brain stimulation.

Background: Neuroferritinopathy is a neurodegenerative disease in which mutations in the ferritin light polypeptide (FTL) gene leads to brain iron depositions.One of the first cases of neuroferritonopathy with 460dupA FTL mutation in the United States was described in a family with German ancestry.  It may be associated with abnormal movements including chorea, tremor, ataxia and dystonia which are often treatment-resistant. We describe the clinical course of a patient with this disorder and his response to deep brain stimulation.

Method: Single case report.

Results: 49 year-old male initially presented to a clinic with a 2 year history of facial dystonic movements, bruxism, tongue-biting and vocalizations. Family history was significant for similar abnormal movements in his paternal relatives (father, grandfather and grand-uncles). Patient’s father had genetically confirmed 460dupA FTL mutation.  The patient subsequently noted dystonic posturing of the neck followed by tremor of bilateral upper extremities, right>left. He was placed on a tetrabenazine for the facial stereotypies and responded well initially, however his clinical symptoms progressed to involve resting tremor of upper and lower extremities as well as bradykinesia and some cogwheel rigidity which did not respond to standard medical therapy. His gait and balance were impaired. The patient underwent deep brain stimulation surgery targeting bilateral dentatorubrothalamic tract with subsequent improvement in tremors, balance and gait. At his 48 month follow up the patient continues to do well.

Conclusion: Deep brain stimulation may beneficial in patients with neuroferritinopathy who present with abnormal movements such as dystonia and parkinsonian tremor which are refractory to standard treatment. It may be an important consideration to improve their quality of life.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/deep-brain-stimulation-for-atypical-tremors-secondary-to-neuroferritinopathy-single-center-experience/