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Neurological Sciences
Published in: Neurological Sciences 7/2022

08-04-2022 | Schizophrenia | Brief Communication

A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms

Authors: Shanghua Fan, Qian Cao, Bin Peng, Bo Yin, Ting Xiao, Liu Sun, Hongjuan Dong

Published in: Neurological Sciences | Issue 7/2022

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Abstract

GNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis.
Literature
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Domingo A, Yadav R, Ozelius LJ (2021) Isolated dystonia: clinical and genetic updates[J]. J Neural Transm (Vienna) 128(4):405–416CrossRef
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Esposito F, Addor MC, Humm AM et al (2014) GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome[J]. Parkinsonism Relat Disord 20(3):351–352CrossRef
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Vuoristo JT, Berrettini WH, Overhauser J et al (2000) Sequence and genomic organization of the human G-protein Golfalpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia[J]. Mol Psychiatry 5(5):495–501CrossRef
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Geoghegan AR, Al HM, Beauchamp NJ et al (2019) A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus[J]. Mov Disord 34(6):923–924CrossRef
Metadata
Title
A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms
Authors
Shanghua Fan
Qian Cao
Bin Peng
Bo Yin
Ting Xiao
Liu Sun
Hongjuan Dong
Publication date
08-04-2022
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 7/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-022-06060-5

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