Spinal cord atrophy in spinocerebellar ataxia type 1

Atrofia da medula espinhal na ataxia espinocerebelar do tipo 1

A 50-year-old man presented with 9-years history of progressive ataxia. His father had undiagnosed ataxia. Examination showed ataxia and pyramidal signs. Brain MRI: olivopontocerebellar atrophy; spine MRI: global spinal cord atrophy (Figure). Genetic test confirmed spinocerebellar ataxia type-1 (SCA1).

Figure
. A. Sagittal T2-weighted spine MRI demonstrates global spinal cord atrophy; B. Axial T2-weighted spine MRI shows a marked reduced transverse diameter of the thoracic spinal cord; C. Axial T2-weighted brain MRI discloses moderate olivopontocerebellar atrophy.

SCA1 is characterized by cerebellar ataxia with variable degrees of ophthalmoplegia, pyramidal signs, and peripheral neuropathy ¹ . Spinal cord atrophy was described in other SCA subtypes, but not in SCA1 ² . Prominent pyramidal signs and spinal cord atrophy in SCA1 may be explained by long tracts involvement, as in hereditary spastic paraplegia ³ . Spinal cord atrophy must be considered in neuroimaging features related to SCA1.

References

• ¹
  Matilla-Dueñas A, Goold R, Giunti P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum 2008;7:106-114.
• ²
  Lukas C, Hahn HK, Bellenberg B, et al. Spinal cord atrophy in spinocerebellar ataxia type 3 and 6: impact on clinical disability. J Neurol 2008;255:1244-1249.
• ³
  Gilman S, Sima AA, Junck L, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996;39:241-255.

Publication Dates

• Publication in this collection
  01 Dec 2013

History

• Received
  20 Feb 2013
• Reviewed
  18 June 2013
• Accepted
  25 June 2013