揭示由POLG基因突变引起的SANDO综合征患者的双侧前庭病：病例系列 - Suppr

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

作者信息

Belyakova-Bodina Alexandra, Ratanov Mikhail, Schneider Erich, Seliverstov Yury, Nuzhnyi Evgenii, Klyushnikov Sergey, Broutian Amayak

机构信息

Research Center of Neurology, Moscow, Russian Federation.

Institute of Medical Technology, Brandenburg University of Technology Cottbus, Senftenberg, Germany.

出版信息

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

DOI:10.1007/s00415-021-10650-2

PMID:34117923

Abstract

摘要

相似文献

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.

Neuromuscul Disord. 2020 Jul;30(7):590-592. doi: 10.1016/j.nmd.2020.04.008. Epub 2020 May 19.

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

J Mol Neurosci. 2021 Dec;71(12):2462-2467. doi: 10.1007/s12031-021-01831-9. Epub 2021 Apr 1.

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.

Clin Neurol Neurosurg. 2021 Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

Neurologist. 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Genes (Basel). 2020 Dec 31;12(1):54. doi: 10.3390/genes12010054.

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

BMC Med Genet. 2013 Oct 7;14:105. doi: 10.1186/1471-2350-14-105.

本文引用的文献

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):630-4. doi: 10.1136/jnnp-2013-306748. Epub 2014 Aug 20.

Vestibular rehabilitation: rationale and indications.

Semin Neurol. 2013 Jul;33(3):276-85. doi: 10.1055/s-0033-1354593. Epub 2013 Sep 21.

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study.

Br J Ophthalmol. 2010 Sep;94(9):1165-8. doi: 10.1136/bjo.2009.165639. Epub 2010 Jun 24.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

Head impulse test in unilateral vestibular loss: vestibulo-ocular reflex and catch-up saccades.

Neurology. 2008 Feb 5;70(6):454-63. doi: 10.1212/01.wnl.0000299117.48935.2e.

SANDO: two novel mutations in POLG1 gene.

Neuromuscul Disord. 2006 Aug;16(8):507-9. doi: 10.1016/j.nmd.2006.05.016. Epub 2006 Aug 21.

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Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

作者信息

Belyakova-Bodina Alexandra, Ratanov Mikhail, Schneider Erich, Seliverstov Yury, Nuzhnyi Evgenii, Klyushnikov Sergey, Broutian Amayak

机构信息

Research Center of Neurology, Moscow, Russian Federation.

Institute of Medical Technology, Brandenburg University of Technology Cottbus, Senftenberg, Germany.

出版信息

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

DOI:10.1007/s00415-021-10650-2

PMID:34117923

Abstract

摘要

相似文献

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.

Neuromuscul Disord. 2020 Jul;30(7):590-592. doi: 10.1016/j.nmd.2020.04.008. Epub 2020 May 19.

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

J Mol Neurosci. 2021 Dec;71(12):2462-2467. doi: 10.1007/s12031-021-01831-9. Epub 2021 Apr 1.

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.

Clin Neurol Neurosurg. 2021 Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

Neurologist. 2012 Sep;18(5):287-9. doi: 10.1097/NRL.0b013e318266f5a6.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Genes (Basel). 2020 Dec 31;12(1):54. doi: 10.3390/genes12010054.

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

BMC Med Genet. 2013 Oct 7;14:105. doi: 10.1186/1471-2350-14-105.

本文引用的文献

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):630-4. doi: 10.1136/jnnp-2013-306748. Epub 2014 Aug 20.

Vestibular rehabilitation: rationale and indications.

Semin Neurol. 2013 Jul;33(3):276-85. doi: 10.1055/s-0033-1354593. Epub 2013 Sep 21.

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study.

Br J Ophthalmol. 2010 Sep;94(9):1165-8. doi: 10.1136/bjo.2009.165639. Epub 2010 Jun 24.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

Head impulse test in unilateral vestibular loss: vestibulo-ocular reflex and catch-up saccades.

Neurology. 2008 Feb 5;70(6):454-63. doi: 10.1212/01.wnl.0000299117.48935.2e.

SANDO: two novel mutations in POLG1 gene.

Neuromuscul Disord. 2006 Aug;16(8):507-9. doi: 10.1016/j.nmd.2006.05.016. Epub 2006 Aug 21.

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

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Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

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