Objective: To present a case of FD showing significant motor and psychiatric improvement following high-frequency rTMS of the DLPFC

Background: Fahr’s disease (FD) is a rare disorder characterized by bilateral calcifications in the basal ganglia, thalamus, and subcortical white matter, leading to parkinsonism, neuropsychiatric disturbances, and cognitive impairment. No disease-modifying treatments exist, and current therapies are symptomatic. rTMS, used for neuropsychiatric conditions, has shown promise in improving depressive symptoms and motor functions in other disorders like Parkinson’s disease, by modulating cortical excitability and fronto-striatal circuits. However, its potential use in FD remains unexplored.

Method: 40-year-old female diagnosed with FD in her 30s presented with parkinsonism and treatment-resistant depression. Partial symptomatic relief was achieved with levodopa and amantadine, however depressive symptoms persisted. The patient underwent high-frequency rTMS targeting the left DLPFC using intermittent theta burst stimulation (iTBS) at 10 Hz, five times a week for 30 sessions. Baseline assessments included the MDS-UPDRS, MADRS, Hamilton Anxiety and Depression Scales, and INP-Q, with side effects monitored throughout treatment.

Results: Significant clinical improvement was observed after 15 sessions. MADRS scores decreased from 42 to 5, indicating substantial remission of depressive symptoms. Motor symptoms improved, with MDS-UPDRS Part III scores decreasing from 48 to 27, additional improvements were noted (Table 1).  The patient reported reduced gait freezing and falls, leading to enhanced functional independence. Mild headache was the only reported side effect. These findings align with previous studies demonstrating the efficacy of rTMS in neurodegenerative diseases. Lefaucheur et al (2014)[1] reported motor improvements in Parkinson’s disease following DLPFC-targeted rTMS, while Brunoni et al (2017)[2]  highlighted its effectiveness in treatment-resistant depression. Boggio et al (2006)[3]also observed improvements in gait and motor function with rTMS applied to motor-related cortical areas.

Conclusion: This case suggests that rTMS may provide dual benefits for both psychiatric and motor symptoms in Fahr’s disease. Given the rarity of FD and the lack of disease-modifying treatments, further studies are warranted to explore its long-term efficacy and optimize stimulation protocols.

Table 1.

References: 1.Lefaucheur JP, et al. (2020). Evidence-based guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS): An update (2020). Clin Neurophysiol, 131(2):474-528.
2. Brunoni, A. R., Chaimani, A., Moffa, A. H., Razza, L. B., Gattaz, W. F., & Daskalakis, Z. J. (2017). Repetitive transcranial magnetic stimulation for the acute treatment of major depressive episodes: a systematic review with network meta-analysis. JAMA Psychiatry, 74(2), 143-152.
3. Boggio, P. S., Fregni, F., Bermpohl, F., Mansur, C. G., Rosa, M., Rumi, D. O., … & Pascual-Leone, A. (2006). Effects of repetitive transcranial magnetic stimulation on primary motor cortex excitability in Parkinson’s disease. Neurology, 66(5), 811-815.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/whispers-of-hope-motor-and-psychiatric-recovery-in-fahrs-disease-with-high-frequency-rtms-a-case-report/