Cited by 261Mitochondrial Function and PathologyHereditary Neurological DisordersGenetic Neurodegenerative Diseases

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

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.·2004·Neurology

DOI 10.1212/01.wnl.0000140494.58732.83

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1212/01.wnl.0000140494.58732.83

Cites

37 of 37 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
Nishino, I., Spinazzola, A., & Hirano, M. (1999) · Science · doi:10.1126/science.283.5402.689 · Cited by 899
Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria
Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics · doi:10.1038/90058 · Cited by 882
Self-citation
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001) · Nature Genetics · doi:10.1038/90034 · Cited by 841
Self-citation
Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttälä, A., Zeviani, M., Comi, G. P., Keränen, S., Peltonen, L., & Suomalainen, A. (2000) · Science · doi:10.1126/science.289.5480.782 · Cited by 641
Self-citation
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., & DiDonato, S. (1989) · Nature · doi:10.1038/339309a0 · Cited by 636
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
Moraes, C. T., Shanske, S., Tritschler, H., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A., & DiMauro, S. (1991) · PubMed · Cited by 586
MITOMAP: a human mitochondrial genome database
Kogelnik, A. M. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.177 · Cited by 524
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Hirano, M., Silvestri, G., Blake, D. M., Lombès, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertoríni, T. E., et al. (1994) · Neurology · doi:10.1212/wnl.44.4.721 · Cited by 403
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10278 · Cited by 270
Determination of Single-Nucleotide Polymorphisms by Real-time Pyrophosphate DNA SequencingPreprint
Alderborn, A., Kristofferson, A., & Hammerling, U. (2000) · Genome Research · doi:10.1101/gr.10.8.1249 · Cited by 258

Show all 37 references

Research works printed but not linked: 1

Martin JJ. Thalamic degenerations. In: de Jong JMBV ed. Handbook of Clinical Neurology vol. 16/60 Hereditary Neuropathies and Spinocerebellar Atrophies. Amsterdam: Elsevier Science Publishers 1991: 701–715.

Sorted by citations

Items 101–200 of 261

Cognitive dysfunction in mitochondrial disorders
Finsterer, J. (2012) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2012.01649.x · Cited by 51
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype–phenotype correlations for the complete spectrum of POLG syndromes
Farnum, G. A., Nurminen, A., & Kaguni, L. S. (2014) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2014.01.021 · Cited by 53
Rare Neurodegenerative Diseases: Clinical and Genetic Update
Matilla‐Dueñas, A., Corral‐Juan, M., Rodríguez‐Palmero, A., Vilas, D., Ispierto, L., Morais, S., Sequeiros, J., Alonso, I. D. C. M. P., Volpini, V., Serrano, C., et al. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-67144-4_25 · Cited by 52
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human
Baruffini, E., Ferrero, I., & Foury, F. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2007.10.002 · Cited by 51
Biomarkers for mitochondrial respiratory chain disorders
Suomalainen, A. (2010) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-010-9222-3 · Cited by 49
Self-citation
DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms
Abugable, A. A., Morris, J. L. M., Palminha, N. M., Zaksauskaite, R., Ray, S., & El‐Khamisy, S. F. (2019) · DNA repair · doi:10.1016/j.dnarep.2019.102669 · Cited by 53
Mitochondrial Disease in Childhood: Nuclear Encoded
Goldstein, A. C., Bhatia, P., & Vento, J. M. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0185-6 · Cited by 48
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Naïmi, M., Bannwarth, S., Procaccio, V., Pouget, J., Desnuelle, C., Pellissier, J., Rötig, A., Münnich, A., Calvas, P., Richelme, C., et al. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201627 · Cited by 48
Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features
Uusimaa, J., Gowda, V. L., McShane, A., Smith, C., Evans, J., Shrier, A., Narasimhan, M., O'Rourke, A. W., Rajabally, Y. A., Hedderly, T. J., et al. (2013) · Epilepsia · doi:10.1111/epi.12115 · Cited by 47
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
Stewart, J. D., Tennant, S., Powell, H., Pyle, A., Blakely, E. L., He, L., Hudson, G., Roberts, M., du Plessis, D., Gow, D. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058180 · Cited by 47
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
Euro, L., Farnum, G. A., Palin, E., Suomalainen, A., & Kaguni, L. S. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr618 · Cited by 48
Self-citation
Juvenile Alpers Disease
Wiltshire, E. J., Davidzon, G., DiMauro, S., Akman, H. O., Sadleir, L. G., Haas, L., ZUCCOLLO, J. M., McEwen, A., & Thorburn, D. R. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.14 · Cited by 46
Autosomal recessive ataxias: 20 types, and counting
Embiruçu, E. K., Martyn, M. L., Schlesinger, D., & Kok, F. (2009) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2009000600036 · Cited by 44
Genetics of enteric neuropathies
Brosens, E., Burns, A. J., Brooks, A. S., Matera, I., Borrego, S., Ceccherini, I., Tam, P. K. H., García-Barceló, M.-M., Thapar, N., Benninga, M. A., et al. (2016) · Developmental Biology · doi:10.1016/j.ydbio.2016.07.008 · Cited by 45
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders
Palin, E., Paetau, A. E., & Suomalainen, A. (2013) · Brain · doi:10.1093/brain/awt160 · Cited by 46
Self-citation
Ataxia in mitochondrial disorders
Zeviani, M., Simonati, A., & Bindoff, L. A. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00022-x · Cited by 43
SANDO: Two novel mutations in POLG1 gene
Gago, M. F., Rosas, M. J., Guimarães, J., Ferreira, M., Vilarinho, L., Castro, L., & Carpenter, S. (2006) · Neuromuscular Disorders · doi:10.1016/j.nmd.2006.05.016 · Cited by 43
POLG-related disorders
Milone, M., Benarroch, E. E., & Wong, L.-J. C. (2011) · Neurology · doi:10.1212/wnl.0b013e318238863a · Cited by 42
Adult‐onset ataxia and polyneuropathy caused by mitochondrial 8993T→C mutation
Rantamäki, M., Soini, H. K., Finnilä, S., Majamaa, K., & Udd, B. (2005) · Annals of Neurology · doi:10.1002/ana.20555 · Cited by 40
Self-citation
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
Chakrabarty, S., Govindaraj, P., Sankaran, B. P., Nagappa, M., Kabekkodu, S. P., Jayaram, P., Mallya, S. P., Deepha, S., Ponmalar, J. N. J., Arivinda, H. R., et al. (2021) · Journal of Neurology · doi:10.1007/s00415-020-10390-9 · Cited by 40
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome
Chan, S. S. L., Longley, M. J., Naviaux, R. K., & Copeland, W. C. (2005) · DNA repair · doi:10.1016/j.dnarep.2005.08.010 · Cited by 40
Mitochondria and Peripheral Neuropathies
Vital, A., & Vital, C. (2012) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3182764d47 · Cited by 39
Selective Neuron Vulnerability in Common and Rare Diseases—Mitochondria in the Focus
Paß, T., Wiesner, R. J., & Pla‐Martín, D. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.676187 · Cited by 37
Mitochondrial Ataxias
Finsterer, J. (2009) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100008027 · Cited by 35
Variations of the CAG trinucleotide repeat in DNA polymerase gamma (POLG1) is associated with Parkinson's disease in Sweden
Anvret, A., Westerlund, M., Sydow, O., Willows, T., Lind, C., Galter, D., & Belin, A. C. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.08.082 · Cited by 34
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties
Singh, B., Owens, K. M., Bajpai, P., Desouki, M. M., Srinivasasainagendra, V., Tiwari, H. K., & Singh, K. K. (2015) · PLoS ONE · doi:10.1371/journal.pone.0139846 · Cited by 33
NGS in Hereditary Ataxia: When Rare Becomes Frequent
Galatolo, D., Michele, G. D., Silvestri, G., Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22168490 · Cited by 32
Central Nervous System Imaging in Mitochondrial Disorders
Finsterer, J. (2009) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/s0317167100006508 · Cited by 32
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations
Weiss, M. D., & Saneto, R. P. (2010) · Muscle & Nerve · doi:10.1002/mus.21636 · Cited by 32
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation
Henao, A. I., Paredes, S. M. P., Herrera, D. A., Vargas, S. A., Montoya, J., & Castillo, M. (2016) · The Neuroradiology Journal · doi:10.1177/1971400915621324 · Cited by 30
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance
Kang, Y., Hepojoki, J., Sartori-Maldonado, R., Mito, T., Terzioglu, M., Manninen, T., Kant, R., Singh, S. K., Othman, A., Verma, R., et al. (2024) · Nature · doi:10.1038/s41586-024-07260-z · Cited by 32
Self-citation
Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure
Helbling, D. C., Buchaklian, A. H., Wang, J., Wong, L., & Dimmock, D. (2013) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31829ef4b4 · Cited by 29
Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes
Spinazzola, A., & Zeviani, M. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-2813-6_6 · Cited by 28
A mechanistic view of human mitochondrial DNA polymerase γ: Providing insight into drug toxicity and mitochondrial disease
Bailey, C. M., & Anderson, K. S. (2010) · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · doi:10.1016/j.bbapap.2010.01.007 · Cited by 29
The conserved translocase Tim17 prevents mitochondrial DNA loss
Iacovino, M., Granycome, C., Sembongi, H., Bokori‐Brown, M., Butow, R. A., Holt, I. J., & Bateman, J. E. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn313 · Cited by 28
Myoclonus epilepsy in mitochondrial disorders
Lamperti, C., & Zeviani, M. (2016) · Epileptic Disorders · doi:10.1684/epd.2016.0846 · Cited by 28
Adult-onset Mendelian PEO Associated with Mitochondrial Disease
Sommerville, E. W., Chinnery, P. F., Gorman, G. S., & Taylor, R. W. (2014) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-140041 · Cited by 28
POLG1 , C10ORF2 , and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
Hudson, G., Deschauer, M., Taylor, R. W., Hanna, M. G., Fialho, D., Schaefer, A. M., He, L., Blakely, E. L., Turnbull, D. M., & Chinnery, P. F. (2006) · Neurology · doi:10.1212/01.wnl.0000210486.32196.24 · Cited by 28
Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)
Vogel, A. P., Rommel, N., Oettinger, A., Horger, M. S., Krumm, P., Kraus, E.-M., Schöls, L. J., & Synofzik, M. (2017) · Mitochondrion · doi:10.1016/j.mito.2017.06.002 · Cited by 27
Digenic mutations in severe myoclonic epilepsy of infancy
Bolszak, M., Anttonen, A., Komulainen, T., Hinttala, R., Pakanen, S., Sormunen, R. T., Herva, R., Lehesjoki, A., Majamaa, K., Rantala, H., et al. (2009) · Epilepsy Research · doi:10.1016/j.eplepsyres.2009.03.004 · Cited by 26
Precision medicine in epilepsy
McGinn, R. J., Stein, E. L. V., Stromberg, J. E. S., & Li, Y. (2022) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2022.04.001 · Cited by 26
Palatal tremor and facial dyskinesia in a patient with POLG1 mutation
Johansen, K. K., Bindoff, L. A., Rydland, J., & Aasly, J. O. (2008) · Movement Disorders · doi:10.1002/mds.22178 · Cited by 24
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients
Barton, B. R., Diederich, N. J., Soni, M., Witte, K., Weinhold, M., Krause, M., & Jackson, S. (2013) · Journal of Neurology · doi:10.1007/s00415-013-6975-2 · Cited by 23
ATR regulates neuronal activity by modulating presynaptic firing
Kırtay, M., Sell, J., Marx, C., Haselmann, H., Ceangă, M., Zhou, Z., Rahmati, V., Kirkpatrick, J. M., Buder, K., Grigaravičius, P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24217-2 · Cited by 24
A polymorphic polymerase
DiMauro, S. (2006) · Brain · doi:10.1093/brain/awl169 · Cited by 23
The spectrum of epilepsy caused by POLG mutations
Janssen, W., Quaegebeur, A., Goethem, G. V., Löfgren, A., Smets, K., Vandenberghe, R. R., & Paesschen, W. V. (2015) · Acta Neurologica Belgica · doi:10.1007/s13760-015-0499-8 · Cited by 22
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia
Palin, E., Hakonen, A. H., Korpela, M., Paetau, A. E., & Suomalainen, A. (2011) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2011.11.028 · Cited by 21
Self-citation
Alpers syndrome with prominent white matter changes
Bao, X., Wu, Y., Wong, L. C., Zhang, Y., Xiong, H., Chou, P., Truong, C. K., Jiang, Y., Qin, J., Yuan, Y., et al. (2007) · Brain and Development · doi:10.1016/j.braindev.2007.08.009 · Cited by 21
Trouble in the cell's powerhouse
Narendra, D. P., & Youle, R. J. (2012) · Nature · doi:10.1038/nature10952 · Cited by 20
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation
McHugh, J. C., Lonergan, R. M., Howley, R., O’Rourke, K., Taylor, R. W., Farrell, M., Hutchinson, M., & Connolly, S. (2009) · Muscle & Nerve · doi:10.1002/mus.21494 · Cited by 20
Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype
Mehta, A. R., Fox, S. H., Tarnopolsky, M. A., & Yoon, G. (2011) · Movement Disorders · doi:10.1002/mds.23510 · Cited by 20
A homozygous mutation ofVWA3Bcauses cerebellar ataxia with intellectual disability
Kawarai, T., Tajima, A., Kuroda, Y., Saji, N., Orlacchio, A., Terasawa, H., Shimizu, H., Kita, Y., Izumi, Y., Mitsui, T., et al. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-309828 · Cited by 20
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Komulainen, T., Hinttala, R., Kärppä, M., PAJUNEN, L., Finnilä, S., Tuominen, H. J., Rantala, H., Hassinen, I. E., Majamaa, K., & Uusimaa, J. (2010) · BMC Neurology · doi:10.1186/1471-2377-10-29 · Cited by 18
Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism
Dolhun, R., Presant, E. M., & Hedera, P. (2013) · BMC Neurology · doi:10.1186/1471-2377-13-92 · Cited by 17
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease
Kaliszewska, M., Kruszewski, J., Kierdaszuk, B., Kostera‐Pruszczyk, A., Nojszewska, M., Łusakowska, A., Vizueta, J., Sabat‐Pośpiech, D., Lutyk, D., Lower, M., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1578-x · Cited by 17
Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNAGlu(MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study
Lax, N. Z., Gnanapavan, S., Dowson, S. J., Alston, C. L., He, L., Polvikoski, T. M., Jaros, E., O’Donovan, D. G., Yarham, J. W., Turnbull, D. M., et al. (2013) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31828129c5 · Cited by 16
Leukoencephalopathies in Mitochondrial Disorders: Clinical and MRI Findings
Finsterer, J., & Zarrouk‐Mahjoub, S. (2012) · Journal of Neuroimaging · doi:10.1111/j.1552-6569.2011.00693.x · Cited by 16
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.
Lam, C., Law, C.-Y., Siu, W., Fung, C.-W., Yau, M.-M., Huen, K.-F., Lee, H. H.-C., & Mak, C. (2015) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2015.06.028 · Cited by 13
Variations of mitochondrial DNA polymerase γ in patients with Parkinson’s disease
Ylönen, S., Ylikotila, P., Siitonen, A., Finnilä, S., Autere, J. M., & Majamaa, K. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7132-7 · Cited by 16
Novel Autosomal Recessivec10orf2Mutations Causing Infantile-Onset Spinocerebellar Ataxia
Hartley, J. N., Booth, F. A., Bigio, M. R. D., & Mhanni, A. A. (2012) · Case Reports in Pediatrics · doi:10.1155/2012/303096 · Cited by 15
Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team
Saneto, R. P. (2016) · Journal of Multidisciplinary Healthcare · doi:10.2147/jmdh.s84900 · Cited by 15
Parkinsonism in neurodegenerative diseases predominantly presenting with ataxia
Synofzik, M. (2019) · International review of neurobiology · doi:10.1016/bs.irn.2019.10.019 · Cited by 14
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG 1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy
Hynynen, J., Pokka, T. M.-L., Komulainen‐Ebrahim, J., Myllynen, P. K., Kärppä, M., Pylvänen, L., Kälviäinen, R. K., Sokka, A., Jyrkilä, A., Lähdetie, J., et al. (2018) · Epilepsia · doi:10.1111/epi.14568 · Cited by 15
Insights into Lewy body disease from rare neurometabolic disorders
Erskine, D., & Attems, J. (2021) · Journal of Neural Transmission · doi:10.1007/s00702-021-02355-7 · Cited by 14
Phenotypic Variations in 3 Children With POLG1 Mutations
Burusnukul, P., & Reyes, E. D. L. (2009) · Journal of Child Neurology · doi:10.1177/0883073808324539 · Cited by 14
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings
Specchio, N., Pietrafusa, N., Calabrese, C., Trivisano, M., Pepi, C., Palma, L. D., Ferretti, A., Curatolo, P., & Vigevano, F. (2020) · Brain Sciences · doi:10.3390/brainsci10110768 · Cited by 14
Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene
Rossi, M., Escobar, A. M., Radrizzani, M., Tenembaum, S. N., Perandones, C., & Merello, M. (2016) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12397 · Cited by 12
Cerebral imaging in paediatric mitochondrial disorders
Finsterer, J., & Zarrouk‐Mahjoub, S. (2018) · The Neuroradiology Journal · doi:10.1177/1971400918786054 · Cited by 11
Movement disorders and mitochondrial disease
Moustris, A., Edwards, M. J., & Bhatia, K. P. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52014-2.00010-0 · Cited by 11
Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
Alsemari, A., & Al‐Hindi, H. (2015) · Clinical Case Reports · doi:10.1002/ccr3.435 · Cited by 10
POLG mutations presenting as Charcot‐Marie‐Tooth disease
Phillips, J., Courel, S. C., Rebelo, A. P., Bis‐Brewer, D. M., Bardakjian, T., Dankwa, L., Hamedani, A. G., Zuchner, S. L., & Scherer, S. S. (2019) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12313 · Cited by 10
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias
Radziwonik, W., Elert‐Dobkowska, E., Klimkowicz‐Mrowiec, A., Ziora-Jakutowicz, K. N., Stępniak, I., Zaremba, J., & Sułek, A. (2022) · Journal of Applied Genetics · doi:10.1007/s13353-022-00701-3 · Cited by 10
Could it be mitochondrial? When and how to investigate
Chinnery, P. F. (2006) · Practical Neurology · doi:10.1136/jnnp.2006.090050 · Cited by 10
Functional analysis of H. sapiens DNA polymerase γ spacer mutation W748S with and without common variant E1143G
Palin, E., Lesonen, A., Farr, C. L., Euro, L., Suomalainen, A., & Kaguni, L. S. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2010.02.003 · Cited by 10
Self-citation
An overview of neurological and neuromuscular signs in mitochondrial diseases
Chaussenot, A., & Paquis‐Flucklinger, V. (2014) · Revue Neurologique · doi:10.1016/j.neurol.2014.03.007 · Cited by 10
A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions
Nikkanen, J., Landoni, J. C., Balboa, D., Haugas, M., Partanen, J. M., Paetau, A. E., Isohanni, P., Brilhante, V., & Suomalainen, A. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201707993 · Cited by 10
Self-citation
An update on inherited ataxias
Schmitz‐Hübsch, T., & Klockgether, T. (2008) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-008-0048-4 · Cited by 10
Autosomal disorders of mitochondrial DNA maintenance.
Goethem, G. V. (2006) · PubMed · Cited by 10
Cerebral Manifestations of Mitochondrial Disorders
Finsterer, J., & de Carvalho, E. H. T. (2017) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/cjn.2017.211 · Cited by 9
POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults
Нужный, Е. П., Seliverstov, Y. A., Klyushnikov, S. A., Krylova, T., Tsygankova, P. G., Bychkov, I. O., Zakharova, E. Y., Коновалов, Р. Н., Федин, П. А., Abramycheva, N. Y., et al. (2021) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2020.106462 · Cited by 9
Do carriers of POLG mutation W748S have disease manifestations?
Rantamäki, M., Luoma, P. T., Virta, J. J., Rinne, J. K., Paetau, A. E., Suomalainen, A., & Udd, B. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00908.x · Cited by 9
Self-citation
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations
McKelvie, P. A., Marotta, R., Thorburn, D. R., Chin, J., Punchihewa, S., & Collins, S. M. (2012) · Neuromuscular Disorders · doi:10.1016/j.nmd.2011.10.017 · Cited by 8
Stereotypies after herpetic encephalitis with bitemporal lesions
Twardowschy, C. A., de Paola, L., Teive, H. A. G., & Silvado, C. E. (2010) · Movement Disorders · doi:10.1002/mds.22803 · Cited by 8
Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation
Mukai, M., Sugaya, K., Matsubara, S., Cai, H., Yabe, I., Sasaki, H., & Nakano, I. (2014) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.54.417 · Cited by 8
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
Santos, M., Damásio, J., Carmona, S., Neto, J. L., Dehghani, N., Guedes, L. C., Barbot, C., Barros, J., Brás, J., Sequeiros, J., et al. (2022) · Cells · doi:10.3390/cells11060981 · Cited by 8
Proof of progression over time: Finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation
Bös, M., Bauer, J. M., Urbach, H., Elger, C. E., Frank, S., Baron, M. S., Zsurka, G., Kunz, W. S., & Kornblum, C. (2008) · Seizure · doi:10.1016/j.seizure.2008.08.003 · Cited by 8
Mitochondrial encephalomyopathies
Oldfors, A., & Tulinius, M. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)86006-4 · Cited by 8
Mitochondrial Disorders
Donato, S. D., Marmolino, D., & Taroni, F. (2012) · Springer eBooks · doi:10.1007/978-94-007-1333-8_102 · Cited by 7
Update on Nuclear Mitochondrial Genes and Neurologic Disorders
Goldstein, A. C., Bhatia, P., & Vento, J. M. (2012) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2012.09.005 · Cited by 7
Depleción del ácido desoxirribonucleico mitocondrial y mutaciones de POLG en un paciente con neuropatía sensorial atáxica, disartria y oftalmoplejía
Posada, I. J., Gallardo, M. E., Domínguez‐González, C., Rivera, H., Cabello, A., Arenas, J., Martín, M. A., Garesse, R., & Bornstein, B. (2010) · Medicina Clínica · doi:10.1016/j.medcli.2010.03.031 · Cited by 7
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome
de Camaret, B. M., Chassagne, M., Mayençon, M., Padet, S., Crehalet, H., Clerc-Renaud, P., Rouvet, I., Zabot, M. T., Rivier, F., Sarda, P., et al. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.07.011 · Cited by 7
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations
Masingue, M., Adanyeguh, I. M., Tchikviladzé, M., Maisonobe, T., Jardel, C., Damien Galanaud, E., & Mochel, F. (2018) · Mitochondrion · doi:10.1016/j.mito.2018.02.001 · Cited by 7
Cerebral imaging in adult mitochondrial disorders
Finsterer, J. (2019) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2019.07.013 · Cited by 7
Molecular genetics of early-onset Alzheimer's disease and frontotemporal lobar degeneration
Krüger, J. (2010) · Cited by 7
A new pathogenic POLG variant
Russo, S. N., Shah, E. G., Copeland, W. C., & Koenig, M. K. (2022) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2022.100890 · Cited by 7
A transient kinetic approach to investigate nucleoside inhibitors of mitochondrial DNA polymerase γ
Anderson, K. S. (2010) · Methods · doi:10.1016/j.ymeth.2010.05.001 · Cited by 6
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis
Li, L., Jiang, L., Pan, Y., Zhang, X., Pan, L., Nie, Z., Chen, Y., & Jin, L. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01831-9 · Cited by 5
Approche diagnostique des maladies mitochondriales à présentation neurologique
Auré, K., & Lombès, A. (2007) · Revue Neurologique · doi:10.1016/s0035-3787(07)90400-2 · Cited by 5
Atrophies (dégénérescences) cérébelleuses tardives
Meissner, W. G., Tison, F., & Goizet, C. (2013) · Encyclopédie médico-chirurgicale. Neurologie · doi:10.1016/s0246-0378(12)51546-0 · Cited by 5
A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions
Tanaka, K., Tateishi, T., Kawamura, N., Ohyagi, Y., Urata, M., & Kira, J. (2013) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.53.205 · Cited by 5

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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks