Diana A Olszewska1,2, Justin A Kinsella2. 1. Department of Neurology Dublin Neurological Institute at the Mater Misericordiae University Hospital Dublin Ireland. 2. Department of Neurology St. Vincent's University Hospital Dublin Ireland.
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.
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.
Authors: Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek Journal: Neurosci Biobehav Rev Date: 2017-01-28 Impact factor: 8.989
Authors: Alex Henrie; Sarah E Hemphill; Nicole Ruiz-Schultz; Brandon Cushman; Marina T DiStefano; Danielle Azzariti; Steven M Harrison; Heidi L Rehm; Karen Eilbeck Journal: Hum Mutat Date: 2018-06-21 Impact factor: 4.878
Authors: Marlen Colleen Reis; Julia Patrun; Nibal Ackl; Pia Winter; Maximilian Scheifele; Adrian Danek; Dagmar Nolte Journal: Front Mol Neurosci Date: 2022-04-14 Impact factor: 5.639