SCA3 presenting as an isolated axonal polyneuropathy.

OBJECTIVES

To highlight an unexpected clinical presentation and to review the associated polyneuropathy phenotypes of SCA3.

DESIGN

Clinical follow-up.

SETTING

Neurological referral center.

PATIENT: Middle-aged man with no family history for SCA3.

RESULTS

Presentation with an isolated axonal, distal, symmetric, sensorimotor polyneuropathy for 6 years before developing a cerebellar syndrome prompting genetic testing for SCA3.

CONCLUSION

SCA3 can present with an isolated axonal, distal, symmetric, sensorimotor polyneuropathy.