This 61-year-old nurse admitted to have been “always been somewhat clumsy” with the eyes closed. For about a decade, she has felt she could fall when she was taking a shower with the eyes closed. She could just as easily walk into walls. She started to stagger, and some even thought she was drunk. About 8 years ago, she had fallen frequently enough to warrant the use of a walker. She continued to work as a nurse but in the computer support division. More recently, her hand dexterity became compromised. She noted an incipient tremor in both hands when trying to unlock a door or when holding a spoon or fork by her mouth, forcing the use of both hands to stabilize. Speech became somewhat garbled. Her tongue felt thick and she reported some choking episodes. She also has noted occasional horizontal double vision. Her father, paternal uncle, and paternal aunt have had difficulty with walking and balance. She feels her daughter is also clumsy.

Our patient had a long history of slowly progressive truncal and appendicular ataxia associated with peripheral neuropathy, are-flexia, and upgaze impairment, in the absence of cognitive impairment (Montreal Cognitive Assessment = 29/30) in the setting of a heavy family history of ataxia. The history and findings were most consistent with a form of spinocerebellar ataxia. The ophthalmoparesis and the “bulging eyes” appearance suggested SCA 3, which was indeed confirmed through a CAG repeat expansion on ataxin3 (14q32) of 64 repeats in
one allele (normal, 12 to 44). Brain MRI showed atrophy of the cerebellar hemispheres without involvement of the pons, olives, or cervical cord.