SCA7

SCA7 is an autosomal dominantly inherited disease where the ataxin-7 protein (ATXN7 gene) is affected by the polyQ expansion. 

Signs and Symptoms

Severe cerebellar atrophy and retinal dystrophy resulting in yellow-blue blindness with progression to total blindness due to retinitis pigmentosa are characteristic of SCA7. Patients with SCA7 typically show slow saccades, especially horizontally, but other ocular motor deficits are unspecific, making a specific differentiation from other forms of cerebellar ataxia difficult.

Observable ocular motor disorders

  • Horizontal supranuclear gaze palsy
  • Slowing of horizontal saccades (SCA7)

References

Strupp M, et al. Central ocular motor disorders, including gaze palsy and nystagmus. J Neurol, 2014, 261(2):542-558. PubMed

Seidel K, et al. Brain pathology of spinocerebellar ataxias. Acta Neuropathol., 2012, 124(1):1-21. PubMed

Lastres-Becker I, et al. Spinocerebellar ataxia 2 (SCA2). Cerebellum, 2008 7(2):115-124. PubMed