Neuroradiological Findings in the Spinocerebellar Ataxias

Abstract

Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs-clinical, laboratorial, and neuroradiological (NR)-can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods: We conducted a literature search on this topic. Results: The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion: The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.

Essential tremor: the most common form of cerebellar degeneration?

“…The degenerative cerebellar ataxias comprise a heterogeneous group of disorders whose hallmark clinical feature is ataxia, and this is accompanied, to variable degrees, by additional clinical features that are referable to cerebellar dysfunction [1][2][3][4][5][6]. ET is an exceptionally common neurological disease [22] whose primary motor feature is action tremor [23], although patients often manifest intention tremor [24][25][26], mild gait ataxia [27] and other features of cerebellar dysfunction [28].…”

“…Degenerative cerebellar ataxias comprise a heterogeneous group of disorders whose hallmark clinical feature is ataxia (i.e., problems with force and timing of motion) and which are characterized on postmortem by various degrees of cerebellar degeneration; the list of such degenerative disorders of the cerebellum is extensive [1][2][3][4][5][6][7]. While the disorders are clinically heterogeneous, what they have in common is a related set of features that are referable to cerebellar dysfunction.…”

“…While the disorders are clinically heterogeneous, what they have in common is a related set of features that are referable to cerebellar dysfunction. Among several features, these can include gait ataxia, intention tremor, and eye movement abnormalities [1][2][3][4][5][6].…”

Rehabilitation for Spinocerebellar Ataxia

“…Although conventional MRI [44] is widely used for the neuroimaging of spinocerebellar degeneration, to obtain diagnostic findings, few studies have used neuroimaging as a guideline or outcome of rehabilitation. The lack of reports in this context hampers the quantification of cerebellar degeneration in SCA and its correlation with motor dysfunctions.…”

Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias

“…When modelling SCAs, it is useful to first study the disease pathology of the particular subtype in humans by using structural MRI scans and neuropathological investigations of post-mortem brain tissue, preferably at various disease stages. Over the years, post-mortem brain and MRI studies have revealed that SCAs are primarily characterized by atrophy of the cerebellum and brainstem [29,30]. However, the amount of neuronal loss in the cerebellum and other affected brain areas varies greatly between the different SCAs [6,31,32].…”