Alpha-synuclein pathology in colonic biopsy of a suspected multiple system atrophy patient - a case report (P1.177)

Objective: To report a rare case of alpha-synuclein pathology in the colonic biopsy of a suspected multiple system atrophy patient. Background: Alpha-synuclein aggregates are commonly detected on routine colonic biopsies in Parkinson’s disease (PD), but have been rarely reported in multiple system atrophy (MSA). Method: Case report Results: A 72 year old man with hypothyroidism presented with a 12 year history of progressive gait ataxia and an ataxic dysarthria, associated with anti-gliadin antibodies, but without GI symptoms. His response to a gluten-free diet was unclear. He had urinary urgency and incontinence, mild lightheadedness but no dream-enactment. He had no family members with any neurological problems. His MMSE was 18. Eye movements were full, with saccadic pursuit and no nystagmus. He was rigid and hperreflexic but without spasticity or Babinski reflexes. He had limb ataxia, normal strength and normal sensation. He arose from a chair with effort but without pushing-off. His stance was mildly wide-based. Posture was normal. He had mild titubation and lost his balance to either side. His stride was reduced, more on the left and arm-swing was minimal. Balance was poor. Neuroimaging revealed moderate atrophy of the cerebellum and cervical spine. Colonic biopsy taken at routine colonoscopy revealed a polyp which stained positive for alpha-synuclein. Conclusion: Extension of alpha-synuclein pathology beyond the CNS and into the gastrointestinal tract is well-recognized in PD, but has been reported rarely in MSA. Our patient is the second case reported of presumed MSA with alpha-synuclein pathology in the gut. The full extent and significance of this finding warrant further study. Disclosure: Dr. Akbar has nothing to disclose. Dr. Stopa has nothing to disclose. Dr. Anthony has nothing to disclose. Dr. Donahue has nothing to disclose. Dr. Friedman has received personal compensation for activities with Teva, General Electric, UCB Pharma, Addex Therapeutics, Roche, and Lundbeck Research USA, Inc. as a consultant and/or speaker.