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Alpha-Synuclein Biopsy Clarifies Diagnosis in Patient Presenting With Catatonia and Depression

By January 13, 2025No Comments

Alpha-Synuclein Biopsy Clarifies Diagnosis in Patient Presenting With Catatonia and Depression

A recently published case study describes a 45-year-old male patient with a diagnosis of generalized anxiety disorder and major depressive disorder (MDD) with catatonic features. The patient presented to the Mount Sinai Medical Center Behavioral Health Department in Miami Beach, Florida, for electroconvulsive therapy (ECT) evaluation to assess psychiatric treatment options for previously diagnosed conditions.

However, the psychiatric symptoms and initial diagnosis only tell part of this patient’s story. The patient first experienced symptoms three years prior, which he described as “slowed body movements.” Despite this initial reported presentation, he was treated by a psychiatrist for depression and anxiety, but his symptoms did not improve with treatment. A different psychiatrist diagnosed him with MDD with catatonic features as well, which did not improve after trying several medications and 30 sessions of transcranial magnetic stimulation. After these sessions provided no relief of the patient’s symptoms, he was referred for ECT evaluation.

During his evaluation, the patient provided more details about his symptoms, which included short term memory loss, hallucinations, and disturbed sleep to accompany depressive and anxiety symptoms. The clinicians at Mount Sinai also noted some other troubling symptoms during their initial meeting, like poor eye contact, stooped posture, heavy movements, cognitive issues, and a shuffling gait.

Based on this, he was referred to the Wein Center for Alzheimer’s Disease and Memory Disorders to be evaluated for neurodegenerative disorders before starting ECT. His MRI showed no general atrophy, normal hippocampal volume, mild enlargement of the lateral ventricles, and minimal enlargement of the third ventricle.

Six weeks later, the patient reported worsening symptoms, including bradykinesia and difficulty moving, and requested a skin biopsy to look for alpha-synuclein, which returned positive results for the presence of phosphorylated alpha-synuclein. This revelation was noted as “the turning point in this case” because of the diagnosis with a parkinsonian movement disorder, aiding in effective treatment identification.

The patient was subsequently referred to a neurologist, who prescribed carbidopa/levodopa 25/100 mg three times daily to address movement related symptoms. At follow-up, the patient reported significant improvement in his bradykinesia, which corresponded to improvement in his depression and anxiety symptoms.

The case study authors note the significant challenge posed by cases involving both psychiatric and neurological symptoms and call for a multidisciplinary approach, especially in patients with treatment-resistant psychiatric disorders. They add that “utilizing innovative and novel diagnostic tools like the alpha-synuclein biopsy can offer valuable insights and inform appropriate treatment plans.”

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Reference:

Biaggi N, Torres A, Verzura ML, Cruz J, Suarez R. Parkinsonian syndrome diagnosed via novel alpha-synuclein skin biopsy in a patient presenting with catatonic symptoms. Cureus. 2024;16(11):e73441. doi:10.7759/cureus.73441

CND Life Sciences

CND Life Sciences is the creator of the Syn-One Test, the world’s first commercially available test to visualize phosphorylated alpha-synuclein in cutaneous nerve fibers. The test is an objective, evidence-based diagnostic tool to aid in the diagnosis of Parkinson’s disease, dementia with Lewy bodies, multiple system atrophy, or pure autonomic failure.