Citation

Lovan A, Haq IU, Balakrishnan N. BMJ Case Rep. 2013; 2013(ePub): ePub.

Affiliation

Department of Neurology, Wake Forest Baptist Health, Winston Salem, North Carolina, USA.

Copyright

(Copyright © 2013, BMJ Publishing Group)

DOI

10.1136/bcr-2013-010343

PMID

23997076

Abstract

A woman in her early 60s presented to our Movement Disorders Centre with a 5-year history of progressive peripheral neuropathy, gait instability with falls, blurred vision, cognitive impairment and tremors. The patient was found to have profound sensory ataxia, chronic ophthalmoplegia, dementia with significant deficits in registration and construction and bilateral resting tremor of the hands. Investigations revealed an unremarkable MRI of the brain, negative cerebrospinal fluid studies, and unremarkable chemistries. Nerve conduction studies found a severe sensorimotor axonal polyneuropathy. Genetic testing revealed a compound heterozygous mutation in the POLG1 gene consistent with the diagnosis of Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome.

Language: en