A 43-year-old Japanese man with a 15-year history of SCA3 presented to our hospital for a severe depressive state and cenesthopathy. At the age of 28 years, he initially complained of walking instability, which was diagnosed as SCA3 based on clinical symptoms and genetic features. At the age of 30 years, he presented with cervical and truncal dystonia with associated gradual progression of his walking instability. At the age of 42 years, he became completely bedridden.
Sixty days prior to the consult, he presented with cenesthopathy characterized by a feeling that his body was attached to the bed and delusions that he was from the future. Moreover, he complained of anorexia, avolition, restlessness, and psychomotor agitation. Due to the fear of disease progression and the presence of suicidal thoughts, he was referred to our hospital for further assessment and treatment.
The initial psychiatric examination revealed a severe depressive state with a score of 25/52 on the Hamilton Depression Scale-17 (HAMD-17). Moreover, the patient scored 56/126 on the Brief Psychiatric Rating Scale (BPRS). Hematologic and biochemical tests, including thyroid function test, were normal. These findings were consistent with a diagnosis of major depressive disorder with cenesthopathy and delusions associated with SCA3.
We initiated escitalopram (10 mg/day) and olanzapine (2.5 mg/day). Three weeks later, his delusion, depressive state (HAMD-17 score 10/52), and other psychiatric symptoms (BPRS score 40/126) improved. However, his cenesthopathy persisted, which prompted further evaluation.
Axial computed tomography (CT) of the brain showed mild enlargement of the bilateral cerebellar fissures, suggestive of cerebellar atrophy with associated bilateral superior cerebellar peduncle atrophy (Fig. 1a). Sagittal CT of the brain revealed a dilatation of the fourth ventricle, indicative of tegmental atrophy of the pons (Fig. 1b). Single-photon emission computed tomography (SPECT) of the brain demonstrated decreased cerebral blood flow in the cerebellum, vermis, and brainstem (Fig. 2). No other obvious abnormalities were detected on imaging. These findings were consistent with SCA3.
After 8 weeks of treatment, his depressive state (HAMD-17 score 7/52), delusion, and overall psychiatric symptoms (BPRS score 29/126) improved; however, his cenesthopathy persisted.