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Case Reports
. 2020 Mar 9;7(3):318-324.
doi: 10.1002/mdc3.12914. eCollection 2020 Apr.

Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia

Diana A Olszewska  1   2 , Justin A Kinsella  2
Affiliations
Case Reports

Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia

Diana A Olszewska et al. Mov Disord Clin Pract. .

Abstract

Background: Mutations in the STIP1 homology and U-box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal-recessive ataxia type 16 (SCAR16), Gordon-Holmes syndrome, and spinocerebellar ataxia type 48. There have been 15 families described to date with SCAR16.

Cases: We describe a 45-year-old right-handed woman with dysarthria, ataxia, and cervical dystonia with SCAR16 with 2 compound heterozygous variants in the STIP1 homology and U-box containing protein 1 gene, and a family history significant for her 47-year-old sister with dysarthria and cognitive problems.

Conclusion: We present a comprehensive overview of the phenotypic data of all 15 families with SCAR16 and expand the phenotype by describing a third patient with SCAR16 and dystonia reported to date in the literature.

Keywords: SCAR16; STUB1; autosomal recessive ataxia type 16.

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Conflict of interest statement

No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work.

Figures

Figure 1
Figure 1
(A) Family pedigree (red = affected). (B) Brain magnetic resonance imaging of the proband demonstrating cerebellar atrophy, I and II axial and III, IV sagittal T2‐weighted images.
See this image and copyright information in PMC

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