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Review
. 2015 Aug;28(4):413-22.
doi: 10.1097/WCO.0000000000000227.

Primary and secondary ataxias

Hélio A G Teive  1 , Tetsuo Ashizawa
Affiliations
Review

Primary and secondary ataxias

Hélio A G Teive et al. Curr Opin Neurol. 2015 Aug.

Abstract

Purpose of review: This article discusses recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal dominant, episodic, X-linked, and mitochondrial ataxias, as well as idiopathic degenerative and secondary ataxias.

Recent findings: Many important observations have been published in recent years in connection with primary ataxias, particularly new loci and genes. The most commonly inherited ataxias may present with typical and atypical phenotypes. In the group of idiopathic degenerative ataxias, genes have been found in patients with multiple system atrophy type C. Secondary ataxias represent an important group of sporadic, cerebellar, and afferent/sensory ataxias.

Summary: Knowledge of primary ataxias has been growing rapidly in recent years. Here we review different forms of primary ataxia, including inherited forms, which are subdivided into congenital, autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias, episodic ataxias, X-linked ataxias, and mitochondrial ataxias, as well as sporadic ataxias and idiopathic degenerative ataxias. Secondary or acquired ataxias are also reviewed and the most common causes are discussed.

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Conflict of interest statement

Conflicts of interest

There are no conflicts of interest.

Figures

FIGURE 1.
FIGURE 1.
Brain MRI, T2-weighted, axial view. Molar tooth sign, Joubert’s syndrome. Adapted with permission.
FIGURE 2.
FIGURE 2.
Spinal cord MRI, T2-weighted, sagittal view.Cervical spinal cord atrophy in a patient with Friedreich’s ataxia. Adapted with permission.
FIGURE 3.
FIGURE 3.
Conjunctival telangiectasia in a patient with ataxia telangiectasia. Adapted with permission.
FIGURE 4.
FIGURE 4.
‘Bulging eyes’ in a patient with spinocerebellar ataxia type 3. Adapted with permission.
FIGURE 5.
FIGURE 5.
Brain MRI, T1-weighted, sagittal view. Cerebellar atrophy in a patient with spinocerebellar ataxia type 10. Adapted with permission.
FIGURE 6.
FIGURE 6.
Spinocerebellar ataxia type 34. Brain MRI, axial view, T1-weighted, showing cerebellar atrophy. Adapted with permission.
FIGURE 7.
FIGURE 7.
Hot cross bun sign of cerebellar form of multiple system atrophy. Adapted with permission from [61].
See this image and copyright information in PMC

References

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