Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome

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Authors

Arnaud Storck · Hôpitaux Universitaires de Strasbourg

Marie Thérèse Abiwarde

Gaelle Hardy · Institut de Chimie Moléculaire de Grenoble

Anne-Sophie Lebre Pharm · Centre Hospitalier Universitaire de Reims

Sophie Scheidecker · Université de Strasbourg

Maria Cristina Antal · Hôpitaux Universitaires de Strasbourg

Mathieu Anheim · Hôpitaux Universitaires de Strasbourg

Abstract

•<i>VPS11</i> is associated with hypomyelinated leukodystrophy affecting children.•A single case of adult-onset generalized dystonia was reported.•We provide the first replication by describing a second case of complex dystonia related to biallelic variants in <i>VPS11</i>.

Topics & Keywords

RNA regulation and disease Porphyrin Metabolism and Disorders Neurological diseases and metabolism

Publication Details

Published in: Clinical Parkinsonism & Related Disorders

Volume 14, pp. 100419-100419

DOI: 10.1016/j.prdoa.2025.100419

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Confirmation of biallelic VPS11 variants as a cause of complex dystonic syndrome

Authors

Abstract

Topics & Keywords

Publication Details