Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Tremor and Other Hyperkinetic Movements

article

Oriane Trouillard¹  Jeanette Koht²  Thorsten Gerstner³  Siri Moland³  Christel Depienne⁴  Isabelle Dusart⁶  Aurélie Méneret¹  Marta Ruiz⁷  Caroline Dubacq⁶  Emmanuel Roze¹ 

[1] Sorbonne Universités, Institut du Cerveau et de la Moelle épinière;Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust;Child Habilitation Unit, Sørlandet Hospital;CNRS UMR 7104/INSERM U964/Universitéde Strasbourg;Laboratoires de génétique, Institut de génétique médicale d’Alsace, Hôpitaux Universitaires de Strasbourg;Sorbonne Universités, Neurosciences Paris Seine - Institut de Biologie Paris Seine (NPS - IBPS);Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière

关键词: Mirror movement;    RAD51;    motor control;    corticospinal tract;    corpus callosum;    neurodevelopment;   

DOI  :  10.5334/tohm.294

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Autosomal dominant congenital mirror movements (CMM) is a neurodevelopmental disorder characterized by early onset involuntary movements of one side of the body that mirror intentional movements on the contralateral side; these persist throughout life in the absence of other neurological symptoms. The main culprit genes responsible for this condition are RAD51 and DCC . This condition has only been reported in a few families, and the molecular mechanisms linking RAD51 mutations and mirror movements (MM) are poorly understood. Methods: We collected demographic, clinical, and genetic data of a new family with CMM due to a truncating mutation of RAD51 . We reviewed the literature to identify all reported patients with CMM due to RAD51 mutations. Results: We identified a heterozygous nonsense mutation c.760C>T (p.Arg254*) in eight subjects: four with obvious and disabling MM, and four with a mild phenotype. Including our new family, we identified 32 patients from 6 families with CMM linked to RAD51 variants. Discussion: Our findings further support the involvement of RAD51 in CMM pathogenesis. Possible molecular mechanisms involved in CMM pathogenesis are discussed.

【 授权许可】

CC BY