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

doi:10.1007/s12031-021-01831-9

Case Reports

. 2021 Dec;71(12):2462-2467.

doi: 10.1007/s12031-021-01831-9. Epub 2021 Apr 1.

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

Li-Xi Li¹, Li-Ting Jiang¹, You-Gui Pan¹, Xiao-Long Zhang¹, Li-Zhen Pan¹, Zhi-Yu Nie¹, Yu-Hui Chen¹, Ling-Jing Jin²

Affiliations

¹ Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Neurological Department of Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
² Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Neurological Department of Tongji Hospital, Tongji University School of Medicine, Shanghai, China. [email protected].

PMID: 33791913
DOI: 10.1007/s12031-021-01831-9

Case Reports

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

Li-Xi Li et al. J Mol Neurosci. 2021 Dec.

. 2021 Dec;71(12):2462-2467.

doi: 10.1007/s12031-021-01831-9. Epub 2021 Apr 1.

Authors

Li-Xi Li¹, Li-Ting Jiang¹, You-Gui Pan¹, Xiao-Long Zhang¹, Li-Zhen Pan¹, Zhi-Yu Nie¹, Yu-Hui Chen¹, Ling-Jing Jin²

Affiliations

¹ Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Neurological Department of Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
² Neurotoxin Research Center of Key Laboratory of Spine and Spinal Cord Injury Repair and Regeneration of Ministry of Education, Neurological Department of Tongji Hospital, Tongji University School of Medicine, Shanghai, China. [email protected].

PMID: 33791913
DOI: 10.1007/s12031-021-01831-9

Abstract

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a rare mitochondrial disorder associated with mutations in the POLG gene, which encodes the DNA polymerase gamma catalytic subunit. A few POLG-related SANDO cases have been reported, but the genotype-phenotype correlation remains unclear. Here, we report a patient with SANDO carrying two novel missense variants (c.2543G>C, p.G848A and c.452 T>C, p.L151P) in POLG. We also reviewed previously reported cases to systematically evaluate the clinical and genetic features of POLG-related SANDO. A total of 35 distinct variants in the coding region of POLG were identified in 63 patients with SANDO. The most frequent variant was the p.A467T variant, followed by the p.W748S variant. The clinical spectrum of SANDO is heterogeneous. No clear correlation has been observed between the mutation types and clinical phenotypes. Our findings expand the mutational spectrum of POLG and contribute to clinical management and genetic counseling for POLG-related SANDO.

Keywords: Dysarthria; Mutation; Ophthalmoparesis; POLG; Phenotype; Sensory ataxic neuropathy.

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Cited by

[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].
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Mao B, Lin N, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L. Mao B, et al. Front Neurosci. 2023 May 12;17:1165601. doi: 10.3389/fnins.2023.1165601. eCollection 2023. Front Neurosci. 2023. PMID: 37250406 Free PMC article.

References

1. Batla A, Erro R, Ganos C, Stamelou M, Bhatia KP (2015) Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome. Mov Disord Clin Pract 2:304–307 - DOI
1. Bereau M, Anheim M, Echaniz-Laguna A et al (2016) The wide POLG-related spectrum: An integrated view. J Neurol Sci 368:70–76 - DOI
1. Bostan A, Glibert G, Dachy B, Dan B (2012) Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. Auton Neurosci 170:70–72 - DOI
1. Da Pozzo P, Cardaioli E, Rubegni A et al (2017) Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci 38:563–570 - DOI
1. Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY (2020) Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. J Peripher Nerv Syst 25:107–111 - DOI

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[1] Batla A, Erro R, Ganos C, Stamelou M, Bhatia KP (2015) Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome. Mov Disord Clin Pract 2:304–307 - DOI

[2] Batla A, Erro R, Ganos C, Stamelou M, Bhatia KP (2015) Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome. Mov Disord Clin Pract 2:304–307 - DOI

[3] Bereau M, Anheim M, Echaniz-Laguna A et al (2016) The wide POLG-related spectrum: An integrated view. J Neurol Sci 368:70–76 - DOI

[4] Bereau M, Anheim M, Echaniz-Laguna A et al (2016) The wide POLG-related spectrum: An integrated view. J Neurol Sci 368:70–76 - DOI

[5] Bostan A, Glibert G, Dachy B, Dan B (2012) Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. Auton Neurosci 170:70–72 - DOI

[6] Bostan A, Glibert G, Dachy B, Dan B (2012) Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. Auton Neurosci 170:70–72 - DOI

[7] Da Pozzo P, Cardaioli E, Rubegni A et al (2017) Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci 38:563–570 - DOI

[8] Da Pozzo P, Cardaioli E, Rubegni A et al (2017) Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci 38:563–570 - DOI

[9] Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY (2020) Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. J Peripher Nerv Syst 25:107–111 - DOI

[10] Dong HL, Wei Q, Li JQ, Li HF, Bai G, Ma H, Wu ZY (2020) Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease. J Peripher Nerv Syst 25:107–111 - DOI

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

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

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