STIFF EYES IN STIFF-PERSON SYNDROME

Abstract

The clinical findings of stiff-person syndrome (SPS) include trunk and limb muscle stiffness and paroxysmal cramps. Antibodies directed against glutamic acid decarboxylase (GAD) has been associated with SPS. We report a patient with SPS and anti-GAD antibodies (antiGAD-Abs) with a prominent supranuclear gaze palsy and bradykinesia mimicking progressive supranuclear palsy (PSP). ### Case report. A 45-year-old former fighter pilot presented with an 18-month history of stiffness and gait problems that began with several falls backwards while training for a marathon. Six months later, she noted stiffness of the left arm and leg. She reported painful back and limb spasms when startled by touch. Her history was notable for pernicious anemia. Examination (video) including head thrust revealed a supranuclear vertical gaze palsy and vertical greater than horizontal saccade hypometria with prolonged saccade latency. Vertical pursuits were saccadic, but horizontal pursuits were normal. Convergence was impaired. She had a mildly masked facies, asymmetrically increased axial and limb tone, bradykinetic gait and limb movements, and no arm swing while walking. The remainder of the examination was unremarkable. Brain and spinal cord MRI scans showed mild cortical atrophy. EMG showed continuous motor activity at rest, normal 3-Hz repetitive stimulation, and a mild sensory neuropathy. CT of the chest, abdomen, and pelvis were normal. An extensive evaluation including …