POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G.; Luoma, P.; Rantamäki, M.; Al Memar, A.; Kaakkola, S.; Hackman, P.; Krahe, R.; Löfgren, A.; Martin, J. J.; De Jonghe, P.; Suomalainen, A.; Udd, B.; Van Broeckhoven, C.

doi:10.1212/01.wnl.0000140494.58732.83

Cited by 261Mitochondrial Function and PathologyHereditary Neurological DisordersGenetic Neurodegenerative Diseases

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A. +5 more·2004·Neurology

DOI 10.1212/01.wnl.0000140494.58732.83

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Abstract

OBJECTIVE: To identify POLG mutations in patients with sensory ataxia and CNS features. METHODS: The authors characterized clinical, laboratory, and molecular genetic features in eight patients from five European families. The authors conducted sequencing of coding exons of POLG, C10orf2 (Twinkle), and ANT1 and analyzed muscle mitochondrial DNA (mtDNA), including Southern blot analysis and long-range PCR. RESULTS: Ataxia occurred in combination with various CNS features, including myoclonus, epilepsy, cognitive decline, nystagmus, dysarthria, thalamic and cerebellar white matter lesions on MRI, and neuronal loss in discrete gray nuclei on autopsy. Gastrointestinal dysmotility, weight loss, cardiomyopathy, and valproate-induced hepatotoxicity occurred less frequently. Two patients died without preceding signs of progressive external ophthalmoplegia. In muscle, typical findings of mitochondrial disease, such as ragged red fibers and Southern blot mtDNA abnormalities, were absent. POLG mutations were present in eight patients, including two isolated cases, and one Finnish and two unrelated Belgian families contained in total six patients. All POLG mutations were recessive, occurring in a homozygous state in seven patients and in a compound heterozygous state in one patient. The novel W748S mutation was identified in five patients from three unrelated families. CONCLUSIONS: The clinical spectrum of recessive POLG mutations is expanded by sensory ataxic neuropathy, combined with variable features of involvement of CNS and other organs. Progressive external ophthalmoplegia, myopathy, ragged red fibers, and Southern blot abnormalities of muscle mitochondrial DNA also are not mandatory features associated with POLG mutations.

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Most of the mutations in Pol γ are associated with arPEO; they are compound heterozygotes and often occur with common Pol γ mutations, such as A467T, W748S, R309L, G848S, R627W, N846S or T251I in cis with P587L.
“Most of the mutations in Pol γ are associated with arPEO. They are compound heterozygotes and often occur with common Pol γ mutations, such as A467T (Van Goethem et al., 2003a), W748S (Van Goethem et al., 2004), R309L (Lamantea et al., 2002), G848S (Lamantea et al., 2002), R627W (Van Goethem et al., 2003a), N846S (Van Goethem et al., 2003c) or T251I in cis with P587L (Lamantea et al., 2002; Scud”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Van Goethem et al., 2004

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Authors: Van Goethem, G., Luoma, P., Rantamäki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Löfgren, A., Martin, J. J., De Jonghe, P., Suomalainen, A., Udd, B., & Van Broeckhoven, C.
Affiliations: From the Division of Neurology and the Neuromuscular Reference Center (Drs. Van Goethem, De Jonghe, and Martin), University Hospital, Antwerpen, Belgium; Department of Molecular Genetics (Drs. Van Goethem, De Jonghe, and Van Broeckhoven, A. Löfgren), Flanders Interuniversity Institute for Biotechnology (VIB8), Antwerpen, Belgium; Department of Neuropathology (Dr. Martin), Born-Bunge Foundation (BBS), Antwerpen, Belgium; University of Antwerpen (Drs. Van Goethem, De Jonghe, Martin, and Van...
University of Antwerp (BE)
ORCID: Hackman, P.
Krahe, R.
Suomalainen, A.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2004-10-12
Volume: 63
Issue: 7
Pages: 1251-1257
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/01.wnl.0000140494.58732.83
OpenAlex: W2079092178
Cited by: 261
References: 37
Citations by year: 2026: 4 · 2025: 2 · 2024: 2 · 2023: 2 · 2022: 5 · 2021: 8 · 2020: 6 · 2019: 8 · 2018: 5 · 2017: 6 · 2016: 11 · 2015: 12 · 2014: 14 · 2013: 22 · 2012: 17
FWCI: 7.45
Type: journal article
Language: en
Open access: closed
Locations: Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: POLG mutations, mitochondrial DNA polymerase gamma, sensory ataxia, neurodegenerative diseases, ANT1, mitochondrial disease, myoclonus, epilepsy, cognitive decline, white matter lesions, recessive inheritance, novel mutations, Finnish families, Belgian families
MeSH terms: DNA Polymerase gamma, Adolescent, Adult, Aged, Ataxia, Brain, DNA-Directed DNA Polymerase, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Muscles, Mutation, Pedigree, Ophthalmoplegia, Chronic Progressive External, Point Mutation, Neurodegenerative Diseases, Mutation, Missense

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

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