Dataset Information

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

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.

SUBMITTER: Olszewska DA

PROVIDER: S-EPMC7111583 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Publications

Extending the Phenotypic Spectrum Associated with <i>STUB1</i> Mutations: A Case of Dystonia.

Olszewska Diana A DA Kinsella Justin A JA

Movement disorders clinical practice 20200309 3

<h4>Background</h4>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.<h4>Cases</h4>We describe a 45-year-old right-handed woman with dysarthria, ataxia, and cervical dystonia with SCAR16 with 2 com ...[more]

PMID: 32258232

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