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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Figure 1

This flowchart explains diagnostic algorithm for ADCA Type III. After excluding the cases presenting with cerebellar signs plus non-cerebellar features and secondary cerebellar ataxias, we suggest the appropriate genetic testing based on geographic distribution (patient’s country of origin). If the genetic tests are negative for known ADCA Type III gene mutations, we suggest to perform genetic testing for subtypes of ADCA Type I, which could possibly present with pure cerebellar syndrome at the early stage of illness. After excluding these diseases, other familial forms of disorders presenting with cerebellar signs should be considered. ADCA: autosomal dominant cerebellar ataxia; MRI: magnetic resonance imaging; SCA: spinocerebellar ataxia; USA: the United States of America.

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