Olfactory impairment in familial ataxias

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):970-4. doi: 10.1136/jnnp-2012-302770. Epub 2012 Jul 11.

Abstract

The main clinical manifestations of the spinocerebellar ataxias (SCAs) result from the involvement of the cerebellum and its connections. Cerebellar activity has been consistently observed in functional imaging studies of olfaction, but the anatomical pathways responsible for this connection have not yet been elucidated. Previous studies have demonstrated olfactory deficit in SCA2, Friedreich's ataxia and in small groups of ataxia of diverse aetiology. The authors used a validated version of the 16-item smell identification test from Sniffin' Sticks (SS-16) was used to evaluate 37 patients with genetically determined autosomal dominant ataxia, and 31 with familial ataxia of unknown genetic basis. This data was also compared with results in 106 Parkinson's disease patients and 218 healthy controls. The SS-16 score was significantly lower in ataxia than in the control group (p<0.001, 95% CI for β=0.55 to 1.90) and significantly higher in ataxia than in Parkinson's disease (p<0.001, 95% CI for β=-4.58 to -3.00) when adjusted for age (p=0.001, 95% CI for β=-0.05 to -0.01), gender (p=0.19) and history of tobacco use (p=0.41). When adjusted for general cognitive function, no significant difference was found between the ataxia and control groups. This study confirms previous findings of mild hyposmia in ataxia, and further suggests this may be due to general cognitive deficits rather than specific olfactory problems.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Brazil
  • Cerebellar Ataxia / complications*
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / physiopathology*
  • Cerebellum / physiopathology*
  • Cognitive Dysfunction / complications*
  • Cognitive Dysfunction / etiology
  • Cognitive Dysfunction / physiopathology
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Olfaction Disorders / etiology*
  • Olfaction Disorders / physiopathology
  • Olfactory Perception*
  • Parkinson Disease / complications*
  • Parkinson Disease / genetics
  • Parkinson Disease / physiopathology
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / physiopathology