Top

Published in:

04-03-2024 | Hyperhidrosis | Brief Communication

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report

Authors: Yuqiu Zheng, Yingfang She, Zhengwei Su, Kanghui Huang, Shuda Chen, Liemin Zhou

Published in: Neurological Sciences | Issue 6/2024

Abstract

TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. Thus far, merely nine patients harboring five different variants (c.425 + 1G > A; c.413_414delinsAA, p. Ser138*; c.400C > T, p. Arg134*; c.636 + 3_ 636 + 6 del; c.4G > T, p. Glu2*) in TDP2 gene have been reported. Here, we describe the tenth patient with a novel variant (c.650del, p. Gly217GlufsTer7) and new phenotype (pituitary tumor and hyperhidrosis).

Available only for authorised users

Gomez-Herreros F, Schuurs-Hoeijmakers JH, McCormack M, Greally MT, Rulten S, Romero-Granados R et al (2014) TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet 46(5):516–521CrossRefPubMed

Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM et al (2018) Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). Neurol Genet 4(4):e262CrossRefPubMedPubMedCentral

Ciaccio C, Castello R, Esposito S, Pinelli M, Nigro V, Casari G et al (2019) Consolidating the role of TDP2 mutations in recessive spinocerebellar ataxia associated with pediatric onset drug resistant epilepsy and intellectual disability (SCAR23). Cerebellum 18(5):972–975CrossRefPubMed

Gomez-Herreros F, Romero-Granados R, Zeng Z, Alvarez-Quilon A, Quintero C, Ju L et al (2013) TDP2-dependent non-homologous end-joining protects against topoisomerase II-induced DNA breaks and genome instability in cells and in vivo. PLoS Genet 9(3):e1003226CrossRefPubMedPubMedCentral

McKinnon PJ (2014) TDP2 keeps the brain healthy. Nat Genet 46(5):419–421CrossRefPubMed

Errichiello E, Zagnoli-Vieira G, Rizzi R, Garavelli L, Caldecott KW, Zuffardi O (2020) Characterization of a novel loss-of-function mutation in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23). J Hum Genet 65(12):1135–1141CrossRefPubMed

Zoghi S, Khamirani HJ, Hassanipour H, Bostanian P, Masoudian R, Dastgheib SA (2021) A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature. Eur J Med Genet 64(12):104348CrossRefPubMed

Title: A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report
Authors: Yuqiu Zheng
Yingfang She
Zhengwei Su
Kanghui Huang
Shuda Chen
Liemin Zhou
Publication date: 04-03-2024
Publisher: Springer International Publishing
Keywords: Hyperhidrosis
Spinocerebellar Ataxia
Epilepsy
Disorders of Intellectual Development
Intellectual Disability
Published in: Neurological Sciences / Issue 6/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-024-07397-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 6/2024

Combined noninvasive brain stimulation virtual reality for upper limb rehabilitation poststroke: A systematic review of randomized controlled trials

Primary headaches prevalence, characteristics, and healthcare utilization in Italian medical students

Symptoms and age of prodromal Alzheimer’s disease in Down syndrome: a systematic review and meta-analysis

Hand knob sign in Marchiafava–Bignami disease and Wernicke’s encephalopathy

Helicobacter pylori infection and risk of multiple sclerosis: an updated meta-analysis

The TsiogkaSpaeth grid for detection of neurological visual field defects: a validation study