Spinal cord atrophy in spinocerebellar ataxia type 1

Abstract

A 50-year-old man presented with 9-years history of progressive ataxia. His father had undiagnosed ataxia. Exa mi nation showed ataxia and pyramidal signs. Brain MRI: olivopontocerebellar atrophy; spine MRI: global spinal cord atrophy ( Figure). Genetic test confirmed spinocerebellar ataxia type-1 (SCA1).SCA1 is characterized by cerebellar ataxia with variable degrees of ophthalmoplegia, pyramidal signs, and peripheral neuropathy 1 . Spinal cord atrophy was des cribed 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.

Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

“…3 ). Also, similar to what is reported in SCA1 and SCA2, pontine T2-weighted hyperintensities may be present in these patients, resembling in some cases the “hot cross bun” sign morphology [ 12 ]. As the disease progresses, frontal and temporal lobe atrophy can be observed [ 35 ], while abnormal pallidal linear hyperintensities on T2-weighted and FLAIR sequences have been sporadically reported [ 36 ].…”

“…Brain MRI typically shows olivo-ponto-cerebellar atrophy and white matter volume decrease, with a similar distribution but less severe than SCA2 [ 11 , 12 ].…”

“…Usually, the supratentorial compartment is relatively spared by the disease, with high-intensity areas on T2-weighted images in the frontal white matter only anecdotally reported [ 15 ]. Finally, spinal cord volume reduction might be present [ 12 ] and correlates with the SARA score, length of CAG expansion, and disease duration [ 16 ].

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SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group

“…In addition, some autosomal dominant SPG may present with cerebellar signs or cerebellar atrophy, which include SPG4, SPG6, SPG31 and SPG37 [4]. Interestingly, SCA1 may present magnetic resonance imaging abnormalities similar to HSP which is characterized by spinal cord atrophy [8]. Other unusual differential diagnosis with autosomal dominant inherited spastic-ataxia include adult-onset Alexander disease, autosomal dominant spastic-ataxia 1 (SPAX1) and spastic-ataxia and hereditary spastic ataxia with congenital miosis (SPAX7) [1].…”

Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia

“…The region degeneration may also be able to be seen by this method (39). Some other landmarks such as the measurements of some metabolites such as myo-inositol and -acetyl aspartate that can disclose the evidence of neuronal cell loss in the pons and cerebellum and even the supratentorial structures of brain (40).…”