Objective: To present a case report describing a patient with atypical parkinsonism due to a rare genetic condition.

Background: PLAN is one of two major phenotypes of Neurodegeneration with Brain Iron Accumulation (NBIA), a heterogeneous group of disorders characterized by the presence of radiologically discernible high brain iron, particularly within the basal ganglia. Its estimated prevalence is one in one million. Its autosomal recessive inheritance pattern based on mutation at PLAG26, a gene encoding a calcium-independent phospholipase A₂ enzyme iPLA₂-VIA which has proposed roles in cell membrane homeostasis. Its pathophysiology is thought to involve intracellular accumulation of oxidized lipids with downstream impairments to autophagy, iron metabolism, mitochondrial function, and vesicle-based processes.

Method: This case report was prepared after one year of inpatient and outpatient management by psychiatry and neurology services at a tertiary care center system.

Results: A 29-year-old female recently diagnosed with atypical Parkinson’s Disease partially responsive to carbidopa/levodopa presented to the hospital from primary care office with 1 week of worsening confusion, decreased activities of daily living (ADLs), and falls. Neurologic and mental status examinations on admission were significant for weakened reflexes, cogwheel rigidity at wrist and elbow, increased lower extremity tone, tongue and lip fasciculation, stiff posture, speech delay with decreased spontaneity, flat affect and disorganized thought process with depressive, guilty themes. MRI brain showed cerebellar atrophy and EEG showed mild diffuse cerebral disturbance without focal or epileptiform activity. Bush-Francis Catatonia Rating Scale score was 10 and she was treated with lorazepam and electroconvulsive therapy (ECT) for a presumed diagnosis of major depressive disorder with psychotic features and catatonia with mild improvement. In the outpatient setting the lorazepam and ECT were weaned and escitalopram was started with good effect but diagnosis remained unclear until genetic testing was completed. Patient has continued to improve with intensive PT/OT/speech therapy and modest doses of antidepressants and dopamine agonists.

Conclusion: The authors hope that this case report brings greater awareness to this rare illness and its management, and advocate for genetic testing in atypical movement disorder presentations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/case-report-atypical-parkinsonism-revealed-as-plag26-associated-neurodegeneration-plan-on-genetic-testing/