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Article

Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2021

Paolini Paoletti Federico, Prontera Paolo, Nigro Pasquale, Simoni Simone, Cappelletti Giulia, Filidei Marta, Calabresi Paolo, Parnetti Lucilla, Tambasco Nicola

Abstract excerpt

Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than 49 are full penetrance-expanded. The range between 41 and 49 repeats is characterized by decreased penetrance, and it is usually referred to as "small." Here, we describe two patients with the SCA17...

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PMID: 34031796
DOI: 10.1007/s10072-021-05313-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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