Progressive supranuclear palsy phenotypic presentation associated with anti MA2 antibody

Excerpt

We report a 49-year-old lady presented with rapidly progressive gait disturbance for the past 12 months. She also noted stiffness, short stepped gait and dragging of feet. Initially she was able to walk without support, but there were multiple falls and gradual deterioration of symptoms reported. Two months prior to admission, she was bedbound due to worsening of her gait. The speech was slow and strained. She had reduced word output. She complained of increased urinary frequency and urgency. She also noticed difficulty in reading. The patient was a known case of invasive ductal carcinoma of the breast, grade III with spread to axillary nodes. She had a modified Radical mastectomy of right breast a year ago and received 5 cycles of chemotherapy of docetaxel for the same. This was followed by radiation. Examination revealed slow saccades affecting vertical gaze more than horizontal gaze. Square wave jerks were seen. The speech was slow and low in volume. Her MMSE was 29/30, Frontal assessment battery score was 16. Mild axial rigidity was seen. Limb rigidity was asymmetrical left being more affected than the right. Bradykinesia was noted bilaterally. She had normal muscle strength with normal reflexes. Plantar responses were flexors. Gait was slow with short steps with en bloc turning. Contrast-enhanced MRI brain showed midbrain atrophy with an MRPI index of 22.94 [cut off value is 12.4], [Fig. 1]. The whole-body PET scan did not reveal the recurrence or spread of malignancy. USG abdomen and neck were normal. Breast mammosonography was normal. Paraneoplastic panel by immunoblot revealed lgG anti PNMA2 ab to be positive in the serum. She tested negative for other antibodies such as CRMP5, amphiphysin, ANNA2, Yo, Hu, recoverin and GAD65. We did not test her for IgLON5 antibody as she did not have symptoms suggesting the presence of IgLON5 antibody such as sleep related disorder. CSF showed one WBC, normal proteins (33 mg/dl), and normal glucose (64 mg/dl). Oligoclonal bands [OCB] were positive. The patient was started on symptomatic therapy with dopaminergic drugs (Levodopa + Carbidopa 100 + 25 mg half a tablet TID) and intravenous methylprednisolone (15 mg/kg/dose for 5 days). Subsequently, she received two doses 375 mg/m² of intravenous Rituximab. Subjective improvement was noted. The patient at the end of one year follow up noted improvement in her gait and reported less falls.

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