Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

Simon, D.K.; Pulst, S.M.; Sutton, J.P.; Browne, S.E.; Beal, M.F.; Johns, D.R.

doi:10.1212/wnl.53.8.1787

Cited by 141Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and PathologyMetabolism and Genetic Disorders

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

Simon, D.K., Pulst, S.M., Sutton, J.P., Browne, S.E., Beal, M.F., Johns, D.R.·1999·Neurology

DOI 10.1212/wnl.53.8.1787

Open this paper in CoChat — free account

Abstract

OBJECTIVE: To investigate a family with maternally inherited, adult-onset multisystem degeneration including prominent parkinsonism to determine whether clinical features can result from a mitochondrial DNA (mtDNA) mutation. The parkinsonism was levodopa responsive and was associated with the loss of pigmented neurons in the substantia nigra in at least one patient. BACKGROUND: Mitochondrial dysfunction is hypothesized to play a role in late-onset neurodegenerative diseases including PD and AD. Mitochondrial genetic mutations are hypothesized to account for these defects, but attempts to identify specific mtDNA mutations have been inconclusive. METHODS: Clinical examinations, DNA sequencing, and restriction digestion and biochemical analyses were performed. RESULTS: Maternal relatives harbor a G-to-A missense mutation, heteroplasmic in some patients, at nucleotide position 11778 of the mitochondrial ND4 gene of complex I that converts a highly conserved arginine to a histidine. Sequencing of the entire mitochondrial genome in an affected family member reveals no other mutations likely to be pathogenic. This mutation has been identified previously only in families with Leber's hereditary optic neuropathy-a disorder also linked to complex I dysfunction but usually limited clinically to optic atrophy. CONCLUSIONS: These data reveal previously unsuspected clinical heterogeneity of the G11778A mutation, and suggest that an inherited mtDNA mutation can contribute to the development of adult-onset parkinsonism and multisystem degeneration.

Integrity signals

Registry

Crossref · 10.1212/wnl.53.8.1787

Cites

36 of 36 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?

A G11778A mtDNA point mutation in a subunit of mitochondrial complex-I was observed in a family with parkinsonism and multisystem degeneration.
“We observed G11778A mtDNA point mutation in a subunit of mitochondrial complex-I in a family with parkinsonism and multisystem degeneration19.”
From Mitochondrial Approaches for Neuroprotection (2008) · cites this paper as [19]

Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240 · see citing works
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., & Shimizu, N. (1998) · Nature · doi:10.1038/33416 · Cited by 5,227 · see citing works
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060 · see citing works
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,845 · see citing works
Aging, energy, and oxidative stress in neurodegenerative diseases
Beal, M. F. (1995) · Annals of Neurology · doi:10.1002/ana.410380304 · Cited by 1,434 · see citing works
Self-citation
Origin and functional consequences of the complex I defect in Parkinson's disease
Swerdlow, R. H., Parks, J. K., Miller, S. W., Davis, R. E., Tuttle, J. B., Trimmer, P. A., Sheehan, J. P., Bennett, J. P., & Parker, W. D. (1996) · Annals of Neurology · doi:10.1002/ana.410400417 · Cited by 638 · see citing works
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 · see citing works
MITOMAP: a human mitochondrial genome database
Kogelnik, A. M. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.177 · Cited by 524 · see citing works
Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins
Fearnley, I. M., & Walker, J. E. (1992) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(92)90001-i · Cited by 308 · see citing works
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
Brown, M. D., Voljavec, A. S., Lott, M. T., Torroni, A., Yang, C. C., & Wallace, D. C. (1992) · Genetics · doi:10.1093/genetics/130.1.163 · Cited by 269 · see citing works
Leber's Hereditary Optic Neuropathy
Newman, N. J. (1993) · Archives of Neurology · doi:10.1001/archneur.1993.00540050082021 · Cited by 244 · see citing works
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
Moraes, C. T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., & DiMauro, S. (1993) · Neuromuscular Disorders · doi:10.1016/0960-8966(93)90040-q · Cited by 235 · see citing works
Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrophy
Blin, O. J., Desnuelle, C., Rascol, O., Borg, M., Paul, H. P. S., Azulay, J., Billé, F., Figarella-Branger, D. F., Coulom, F., Pellissier, J., et al. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90248-8 · Cited by 182 · see citing works
The etiology of Parkinson's disease with emphasis on the MPTP story
Langston, J. W. (1996) · Neurology · doi:10.1212/wnl.47.6_suppl_3.153s · Cited by 180 · see citing works
Mitochondrial Disorders: Clinical and Genetic Features
Simon, D. K., & Johns, D. R. (1999) · Annual Review of Medicine · doi:10.1146/annurev.med.50.1.111 · Cited by 150 · see citing works
Self-citation
Nucleotide sequence of both reciprocal translocation junction regions in a patient with Ph positive acute lymphoblastic leukaemia, with a breakpoint within the first intron of theBCRgene
van der Feltz, M. J. M., Shivji, M. K. K., Allen, P. B., Heisterkamp, N., Groffen, J., & Wiedemann, L. M. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.1.1 · Cited by 136 · see citing works
Leber's hereditary optic neuropathy
Carelli, V., Ghelli, A. M., Ratta, M., Bacchilega, E., Sangiorgi, S., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E., et al. (1997) · Neurology · doi:10.1212/wnl.48.6.1623 · Cited by 124 · see citing works
MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C. I., & Lugaresi, E. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.1740 · Cited by 123 · see citing works
Heteroplasmy in Leber's Hereditary Optic Neuropathy
Smith, K. H. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110052022 · Cited by 122 · see citing works
A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy
Parker, W. D., Oley, C. A., & Parks, J. K. (1989) · New England Journal of Medicine · doi:10.1056/nejm198905183202007 · Cited by 113 · see citing works
Mitochondrial Dysfunction in Idiopathic Parkinson Disease
Parker, W. D., & Swerdlow, R. H. (1998) · The American Journal of Human Genetics · doi:10.1086/301812 · Cited by 97 · see citing works
Mitochondrial dysfunction in movement disorders
Schulz, J. B., & Beal, M. F. (1994) · Current Opinion in Neurology · doi:10.1097/00019052-199408000-00010 · Cited by 92 · see citing works
Self-citation
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base
Marzuki, S., Noer, A. S., Lertrit, P., Thyagarajan, D. E., Kapsa, R. M. I., Utthanaphol, P., & Byrne, E. (1991) · Human Genetics · doi:10.1007/bf00206061 · Cited by 81 · see citing works
Machado–Joseph disease gene products carrying different carboxyl termini
Goto, J., Watanabe, M., Ichikawa, Y., Yee, S.-B., Ihara, N., Endo, K., Igarashi, S., Takiyama, Y., Gaspar, C., Maciel, P., et al. (1997) · Neuroscience Research · doi:10.1016/s0168-0102(97)00056-4 · Cited by 80 · see citing works
Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques
Casalone, R., Granata, P., Minelli, E., Portentoso, P., Giudici, A., Righi, R., Castelli, P., Socrate, A. M., & Frigerio, B. (1991) · Human Genetics · doi:10.1007/bf00204169 · Cited by 78 · see citing works
The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
Cock, H. R., Tabrizi, S. J., Cooper, J. A. D., & Schapira, A. H. V. (1998) · Annals of Neurology · doi:10.1002/ana.410440208 · Cited by 77 · see citing works
Platelet mitochondrial function in Leber's hereditary optic neuropathy
Smith, P. R., Cooper, J. A. D., Govan, G. G., Harding, A. E., & Schapira, A. H. V. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90055-8 · Cited by 76 · see citing works
Catalytic Activity of Complex I in Cell Lines that Possess Replacement Mutations in the ND Genes in Leber's Hereditary Optic Neuropathy
Majander, A. S., Finel, M., Savontaus, M., Nikoskelainen, E. K., & Wikström, M. K. F. (1996) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1996.0201u.x · Cited by 71 · see citing works
Platelet mitochondrial respiratory chain function in Parkinson's disease
Blake, C. I., Spitz, E., Leehey, M. A., Hoffer, B. J., & Boyson, S. J. (1997) · Movement Disorders · doi:10.1002/mds.870120103 · Cited by 68 · see citing works
Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features
Chalmers, R. M., Brockington, M., Howard, R., Lecky, B. R. F., MORGAN-HUGHES, J. A., & Harding, A. E. (1996) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)00032-9 · Cited by 49 · see citing works
Genetic aspects of Parkinson's disease
Bandmann, O., MARSDEN, C. D., & Wood, N. W. (1998) · Movement Disorders · doi:10.1002/mds.870130203 · Cited by 47 · see citing works
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
Checcarelli, N., Prelle, A. C., Moggio, M. G., Comi, G. P., Bresolin, N., Papadimitriou, A., Fagiolari, G., Bordoni, A., & Scarlato, G. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90206-2 · Cited by 37 · see citing works
Movement disorders and mitochondrial dysfunction
Hanna, M. G., & Bhatia, K. P. (1997) · Current Opinion in Neurology · doi:10.1097/00019052-199708000-00012 · Cited by 32 · see citing works
Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA
Johns, D. R., & Hurko, O. (1989) · Genomics · doi:10.1016/0888-7543(89)90032-3 · Cited by 30 · see citing works
Self-citation
Corrections to the human mitochondrial ribosomal RNA sequences
Prezant, T. R., Agapian, J., & Fischel‐Ghodsian, N. (1994) · Human Genetics · doi:10.1007/bf00218923 · Cited by 7 · see citing works

Flagged first, then by citations

Sorted by citations

Mitochondrial Dysfunction and Oxidative Stress in Neurodegenerative Diseases
Lin, M. T., & Beal, M. F. (2006) · Nature · doi:10.1038/nature05292 · Cited by 6,455 · see citing works
Self-citation
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
Wallace, D. C. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.110304.095751 · Cited by 3,185 · see citing works
Ageing and Parkinson's disease: Why is advancing age the biggest risk factor?
Reeve, A. K., Simcox, E. M., & Turnbull, D. M. (2014) · Ageing Research Reviews · doi:10.1016/j.arr.2014.01.004 · Cited by 961 · see citing works
Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis
Henchcliffe, C., & Beal, M. F. (2008) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0924 · Cited by 786 · see citing works
Self-citation
Energetics in the pathogenesis of neurodegenerative diseases
Beal, M. F. (2000) · Trends in Neurosciences · doi:10.1016/s0166-2236(00)01584-8 · Cited by 472 · see citing works
Self-citation
Mitochondrial Diseases of the Brain
Chaturvedi, R. K., & Beal, M. F. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.03.018 · Cited by 416 · see citing works
Self-citation
Mitochondrial dysfunction in neurodegenerative diseases and drug targets via apoptotic signaling
Wu, Y., Chen, M., & Jiang, J. (2019) · Mitochondrion · doi:10.1016/j.mito.2019.07.003 · Cited by 378 · see citing works
Sensitivity and predictive value of criteria for p53germline mutation screening
Chompret, A., ABEL, A., Stoppa‐Lyonnet, D., Brugières, L., Pagès-Berhouet, S., Feunteun, J., & Bonaïti‐Pellié, C. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.1.43 · Cited by 336 · see citing works
Complex I and Parkinson's Disease
Greenamyre, J. T., Sherer, T., Betarbet, R. S., & Panov, A. V. (2001) · IUBMB Life · doi:10.1080/15216540152845939 · Cited by 335 · see citing works
Chronic systemic complex I inhibition induces a hypokinetic multisystem degeneration in rats
Höglinger, G. U., Féger, J., Prigent, A., Michel, P. P., Parain, K., Champy, P., Ruberg, M., Oertel, W. H., & Hirsch, É. C. (2003) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2003.01533.x · Cited by 331 · see citing works
Mitochondrial Approaches for Neuroprotection
Chaturvedi, R. K., & Beal, M. F. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1427.027 · Cited by 294 · see citing works
Self-citation
Parkinson's disease, insulin resistance and novel agents of neuroprotection
Avilés-Olmos, I., Limousin, P. D., Lees, A. J., & Foltynie, T. (2012) · Brain · doi:10.1093/brain/aws009 · Cited by 284 · see citing works
Mitochondrial Dysfunction and Oxidative Damage in Alzheimer's and Parkinson's Diseases and Coenzyme Q10 as a Potential Treatment
Beal, M. F. (2004) · Journal of Bioenergetics and Biomembranes · doi:10.1023/b:jobb.0000041772.74810.92 · Cited by 276 · see citing works
Self-citation
Mitochondrial DNA Integrity: Role in Health and Disease
Sharma, P., & Sampath, H. (2019) · Cells · doi:10.3390/cells8020100 · Cited by 272 · see citing works
Mitochondrial dysfunction in the limelight of Parkinson's disease pathogenesis
Banerjee, R., Starkov, A. A., Beal, M. F., & Thomas, B. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.11.007 · Cited by 256 · see citing works
Self-citation
Bioenergetic approaches for neuroprotection in Parkinson's disease
Beal, M. F. (2003) · Annals of Neurology · doi:10.1002/ana.10479 · Cited by 236 · see citing works
Self-citation
Mitochondrial Medicine for Aging and Neurodegenerative Diseases
Reddy, P. H. (2008) · NeuroMolecular Medicine · doi:10.1007/s12017-008-8044-z · Cited by 230 · see citing works
Mitochondria as a Therapeutic Target for Aging and Neurodegenerative Diseases
Reddy, P. H., & Reddy, T. P. (2011) · Current Alzheimer Research · doi:10.2174/156720511795745401 · Cited by 227 · see citing works
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
Ghezzi, D., Marelli, C., Achilli, A., Goldwurm, S., Pezzoli, G., Barone, P., Pellecchia, M. T., Stanzione, P., Brusa, L., Bentivoglio, A. R., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201425 · Cited by 205 · see citing works
Kufor Rakeb Disease: Autosomal recessive, levodopa‐responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
Williams, D. R., Hadeed, A., Al-Din, A. S. N., Wreikat, A.-L., & Lees, A. J. (2005) · Movement Disorders · doi:10.1002/mds.20511 · Cited by 198 · see citing works
The role of mitochondria in inherited neurodegenerative diseases
Kwong, J. Q., Beal, M. F., & Manfredi, G. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2006.03990.x · Cited by 180 · see citing works
Self-citation
Mitochondria in Neuroprotection by Phytochemicals: Bioactive Polyphenols Modulate Mitochondrial Apoptosis System, Function and Structure
Naoi, M., Wu, Y., Shamoto‐Nagai, M., & Maruyama, W. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20102451 · Cited by 170 · see citing works
Mitochondria targeted therapeutic approaches in Parkinson's and Huntington's diseases
Chaturvedi, R. K., & Beal, M. F. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2012.11.011 · Cited by 139 · see citing works
Self-citation
M itochondrial DNA and primary mitochondrial dysfunction in P arkinson's disease
Giannoccaro, M. P., Morgia, C. L., Rizzo, G., & Carelli, V. (2017) · Movement Disorders · doi:10.1002/mds.26966 · Cited by 134 · see citing works
Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease
Lin, M. T. S., Cantuti‐Castelvetri, I., Zheng, K., Jackson, K. E., Tan, Y. B., Arzberger, T., Lees, A. J., Betensky, R. A., Beal, M. F., & Simon, D. K. (2012) · Annals of Neurology · doi:10.1002/ana.23568 · Cited by 125 · see citing works
Self-citation
Mitochondrial DNA Deletions/Rearrangements in Parkinson Disease and Related Neurodegenerative Disorders
Gu, G., Reyes, P. F., Golden, G. T., Woltjer, R. L., Hulette, C., Montine, T. J., & Zhang, J. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.7.634 · Cited by 122 · see citing works
Mitochondrial DNA polymorphisms as risk factors for Parkinson?s disease and Parkinson?s disease dementia
Finnil�, S., Autere, J. M., Moilanen, J. S., Soininen, H. S., Mannermaa, A., Hartikainen, P., Hallikainen, M., & Majamaa, K. (2004) · Human Genetics · doi:10.1007/s00439-004-1123-9 · Cited by 120 · see citing works
[18F]Fluorodeoxyglucose positron emission tomography in the diagnosis of cancer in patients with paraneoplastic neurological syndrome and anti-Hu antibodies
Antoine, J.-C. G., Cinotti, L., Tilikete, C., Bouhour, F., Camdessanch�, J. P., Confavreux, C., Vighetto, A., Renault‐Mannel, V., Michel, D., & Honnorat, J. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200007)48:1 · Cited by 86 · see citing works
Cause or casualty: The role of mitochondrial DNA in aging and age-associated disease
Chocrón, E. S., Munkácsy, E., & Pickering, A. M. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2018.09.035 · Cited by 106 · see citing works
Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson’s disease
Simon, D. K., Mayeux, R. P., Marder, K. S., Kowall, N. W., Beal, M. F., & Johns, D. R. (2000) · Neurology · doi:10.1212/wnl.54.3.703 · Cited by 106 · see citing works
Self-citation
A Mitochondrial Etiology of Neurodegenerative Diseases: Evidence from Parkinson's Disease
Хуснутдинова, Э. К., Gilyazova, I. R., Ruiz‐Pesini, E., Derbeneva, O. A., Khusainova, R. I., Khidiyatova, I. M., Magzhanov, R. V., & Wallace, D. C. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1427.001 · Cited by 105 · see citing works
Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations
Li, H., Slone, J. D., Fei, L., & Huang, T. (2019) · Cells · doi:10.3390/cells8060608 · Cited by 103 · see citing works
Therapeutic approaches to mitochondrial dysfunction in Parkinson's disease
Beal, M. F. (2009) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(09)70812-0 · Cited by 103 · see citing works
Self-citation
The Role of Mitochondria in the Pathogenesis of Neurodegenerative Diseases
Manfredim, G., & Beal, M. F. (2000) · Brain Pathology · doi:10.1111/j.1750-3639.2000.tb00278.x · Cited by 101 · see citing works
Self-citation
Neuronal pathology in Parkinson?s disease
Schulz, J. B. (2005) · Cell and Tissue Research · doi:10.1007/s00441-005-1081-0 · Cited by 100 · see citing works
Retracted
A Common NURR1 Polymorphism Associated With Parkinson Disease and Diffuse Lewy Body Disease
Zheng, K., Heydari, B., & Simon, D. K. (2003) · Archives of Neurology · doi:10.1001/archneur.60.5.722 · Cited by 100 · see citing works
Self-citation
Current perspective of mitochondrial biology in Parkinson's disease
Kaidery, N. A., & Thomas, B. (2018) · Neurochemistry International · doi:10.1016/j.neuint.2018.03.001 · Cited by 92 · see citing works
Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation
Dai, Y., Zheng, K., Clark, J., Swerdlow, R. H., Pulst, S. M., Sutton, J. P., Shinobu, L. A., & Simon, D. K. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt450 · Cited by 91 · see citing works
Self-citation
The oxidative damage theory of aging
Lin, M. T., & Flint Beal, M. (2003) · Clinical Neuroscience Research · doi:10.1016/s1566-2772(03)00007-0 · Cited by 89 · see citing works
Self-citation
Milestones in atypical and secondary Parkinsonisms
Wenning, G. K., Litvan, I., & TOLOSA, E. S. (2011) · Movement Disorders · doi:10.1002/mds.23713 · Cited by 87 · see citing works
Neuronal pathology in Parkinson?s disease
Schulz, J. B., & Falkenburger, B. H. (2004) · Cell and Tissue Research · doi:10.1007/s00441-004-0954-y · Cited by 87 · see citing works
Retracted
Genetic findings in Parkinson’s disease and translation into treatment: a leading role for mitochondria?
Bogaerts, V., Theuns, J., & Broeckhoven, C. V. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00342.x · Cited by 86 · see citing works
Mitochondria and Energetic Depression in Cell Pathophysiology
Seppet, E. K., Puurand, M., Peetsalu, A., Gizatullina, Z. Z., Nguyen, H. P., Vielhaber, S., Wussling, M. H. P., Trumbeckaitė, S., Arandarčikaitė, O., Jerzembek, D., et al. (2009) · International Journal of Molecular Sciences · doi:10.3390/ijms10052252 · Cited by 83 · see citing works
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
Morgia, C. L., Achilli, A., Iommarini, L., Barboni, P., Pala, M., Olivieri, A., Zanna, C., Vidoni, S., Tonon, C., Lodi, R., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000295505.74234.d0 · Cited by 79 · see citing works
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
Tarnopolsky, M. A., Baker, S. K., Myint, T., Maxner, C. E., Robitaille, J., & Robinson, B. H. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20449 · Cited by 76 · see citing works
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach
Sedel, F., Saudubray, J., Roze, E. F., Agid, Y., & Vidailhet, M. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-0854-5 · Cited by 75 · see citing works
Development of Therapeutics That Induce Mitochondrial Biogenesis for the Treatment of Acute and Chronic Degenerative Diseases
Cameron, R. B., Beeson, C. C., & Schnellmann, R. G. (2016) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.6b00669 · Cited by 74 · see citing works
Sequence Analysis of the Entire Mitochondrial Genome in Parkinson's Disease
Vives-Bauzá, C., Andreu, A. L., Manfredi, G., Beal, M. F., Janetzky, B., Gruenewald, T. H., & Lin, M. T. S. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2002.6388 · Cited by 73 · see citing works
Self-citation
The multi‐faceted role of mitochondria in the pathology of Parkinson’s disease
Trinh, D., Israwi, A. R., Arathoon, L. R., Gleave, J. A., & Nash, J. E. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15154 · Cited by 72 · see citing works
mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences
Zapico, S. C. (2013) · Aging and Disease · doi:10.14336/ad.2013.0400364 · Cited by 71 · see citing works
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck
Wilson, I., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddv626 · Cited by 68 · see citing works
Targeting BDNF signaling by natural products: Novel synaptic repair therapeutics for neurodegeneration and behavior disorders
Bawari, S., Tewari, D., Argüelles, S., Sah, A. N., Nabavi, S. F., Xu, S., Vacca, R. A., Nabavi, S. M., & Shirooie, S. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2019.104458 · Cited by 68 · see citing works
Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases
Chinnery, P. F., & Gómez-Durán, A. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00682 · Cited by 64 · see citing works
Human mitochondrial DNA diseases
Pulkes, T., & Hanna, M. G. (2001) · Advanced Drug Delivery Reviews · doi:10.1016/s0169-409x(01)00124-7 · Cited by 62 · see citing works
Mitochondrial therapies for Parkinson's disease
Thomas, B., & Beal, M. F. (2010) · Movement Disorders · doi:10.1002/mds.22781 · Cited by 61 · see citing works
Self-citation
Mutations that affect mitochondrial functions and their association with neurodegenerative diseases
Dhillon, V. S., & Fenech, M. F. (2013) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2013.09.001 · Cited by 61 · see citing works
The epigenetic mechanisms involved in mitochondrial dysfunction: Implication for Parkinson’s disease
Chen, Z., Rasheed, M., & Deng, Y. (2021) · Brain Pathology · doi:10.1111/bpa.13012 · Cited by 60 · see citing works
Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration
Zannolli, R., Gilman, S., Rossi, S., Volpi, N., Bernini, A., Galluzzi, P., Galimberti, D., Pucci, L., D’Ambrosio, A., Morgese, G., et al. (2002) · Archives of Neurology · doi:10.1001/archneur.59.8.1319 · Cited by 59 · see citing works
Gender ratio differences between Parkinson's disease patients and their affected relatives
Swerdlow, R. H., Parker, W. D., Currie, L. J., Bennett, J. P., Harrison, M., Trugman, J. M., & Wooten, G. F. (2001) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(00)00029-8 · Cited by 58 · see citing works
POLG1-Related and other “Mitochondrial Parkinsonisms”: an Overview
Orsucci, D., Ienco, E. C., Mancuso, M., & Siciliano, G. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-010-9488-9 · Cited by 56 · see citing works
Movement disorders in mitochondrial disease
Ghaoui, R., & Sue, C. M. (2018) · Journal of Neurology · doi:10.1007/s00415-017-8722-6 · Cited by 56 · see citing works
Oxidative Modification and Its Implications for the Neurodegeneration of Parkinson’s Disease
Zhao, J., Yu, S., Zheng, Y., Yang, H., & Zhang, J. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9743-3 · Cited by 55 · see citing works
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype
Tarnopolsky, M. A., Bourgeois, J. M., Fu, M., Kataeva, G., Shah, J., Simon, D. K., Mahoney, D. J., Johns, D., MacKay, N., & Robinson, B. H. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20466 · Cited by 54 · see citing works
Self-citation
Mitochondrial optic neuropathies
Carelli, V., Morgia, C. L., & Yu‐Wai‐Man, P. (2023) · Handbook of clinical neurology · doi:10.1016/b978-0-12-821751-1.00010-5 · Cited by 47 · see citing works
A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.
Sadun, A. A., Carelli, V., Salomão, S. R., Berezovsky, A., Quirós, P. A., Sadun, F., DeNegri, A., Andrade, R., Schein, S., & Belfort, R. (2002) · Europe PMC (PubMed Central) · Cited by 47 · see citing works
Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?
Wang, H., Dharmalingam, P., Vasquez, V., Mitra, J., Boldogh, I. R., Rao, K. S. J., Kent, T. A., MITRA, S. P., & Hegde, M. L. (2016) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2016.09.005 · Cited by 44 · see citing works
A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
Simon, D. K., Friedman, J., Breakefield, X., Jankovic, J. J., Brin, M., Provias, J., Bressman, S., Charness, M. E., Tarsy, D., Johns, D. R., et al. (2003) · Neurogenetics · doi:10.1007/s10048-003-0150-3 · Cited by 44 · see citing works
Self-citation
Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation
Tarnopolsky, M. A., Simon, D. K., Roy, B. D., Chorneyko, K., Lowther, S. A., Johns, D. R., Sandhu, J. K., Li, Y., & Sikorska, M. (2004) · Muscle & Nerve · doi:10.1002/mus.20020 · Cited by 44 · see citing works
Self-citation
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
Fransén, E., Verstreken, M., Bom, S. J. H., Lemaire, F. X., Kemperman, M. H., KOK, Y. J. M. D., Wuyts, F. L., Verhagen, W. I. M., Huygen, P. L. M., McGuirt, W. T., et al. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.1.61 · Cited by 44 · see citing works
Biochemical Analysis of Cybrids Expressing Mitochondrial DNA from Contursi Kindred Parkinson's Subjects
Swerdlow, R. H., Parks, J. K., Cassarino, D. S., Binder, D. R., Bennett, J. P., Iorio, G. D., Golbe, L. I., & Parker, W. D. (2001) · Experimental Neurology · doi:10.1006/exnr.2001.7674 · Cited by 43 · see citing works
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
Casali, C., Bonifati, V., Santorelli, F. M., Casari, G., Fortini, D., Patrignani, A., Fabbrini, G., Carrozzo, R., d’Amati, G., Locuratolo, N., et al. (2001) · Neurology · doi:10.1212/wnl.56.6.802 · Cited by 41 · see citing works
Damage in Mitochondrial DNA Associated with Parkinson's Disease
Martín-Jiménez, R., Lurette, O., & Hébert-Chatelain, É. (2020) · DNA and Cell Biology · doi:10.1089/dna.2020.5398 · Cited by 40 · see citing works
Reinforcing mitochondrial functions in aging brain: An insight into Parkinson's disease therapeutics
Chandra, G., Shenoi, R. A., Anand, R., Rajamma, U., & Mohanakumar, K. P. (2017) · Journal of Chemical Neuroanatomy · doi:10.1016/j.jchemneu.2017.12.004 · Cited by 39 · see citing works
Does Mitochondrial DNA Play a Role in Parkinson's Disease? A Review of Cybrid and Other Supportive Evidence
Swerdlow, R. H. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2011.3948 · Cited by 35 · see citing works
Low Mutational Burden of Individual Acquired Mitochondrial DNA Mutations in Brain
Simon, D. K., Lin, M. T. S., Ahn, C., Liu, G.-J., Gibson, G. E., Beal, M. F., & Johns, D. R. (2001) · Genomics · doi:10.1006/geno.2001.6515 · Cited by 34 · see citing works
Self-citation
The mitochondrial common deletion in Parkinson's disease and related movement disorders
Zhang, J., Montine, T. J., Smith, M. A., Siedlak, S. L., Gu, G., Robertson, D., & Perry, G. L. (2002) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(01)00041-4 · Cited by 31 · see citing works
Leber’s hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery
Leo‐Kottler, B., Luberichs, J., Besch, D., Christ-Adler, M., & Fauser, S. (2002) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-002-0494-7 · Cited by 29 · see citing works
Parkinsonism and inborn errors of metabolism
García‐Cazorla, À., & Duarte, S. T. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9723-6 · Cited by 28 · see citing works
Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease
the Parkinson Study Group - PROGENI Investigators, Simon, D. K., Pankratz, N., Kissell, D., Pauciulo, M. W., Halter, C. A., Rudolph, A., Pfeiffer, R. F., Nichols, W. C., & Foroud, T. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-53 · Cited by 27 · see citing works
Self-citation
Mitochondria: Prospective Targets for Neuroprotection in Parkinson’s Disease
Yadav, A., Agarwal, S., Tiwari, S. K., & Chaturvedi, R. K. (2014) · Current Pharmaceutical Design · doi:10.2174/1381612820666140305224545 · Cited by 22 · see citing works
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum
Vital, A., Lepreux, S., & Vital, C. (2014) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12099 · Cited by 21 · see citing works
Environmental and Genetic Variables Influencing Mitochondrial Health and Parkinson’s Disease Penetrance
Zanon, A., Pramstaller, P. P., Hicks, A. A., & Pichler, I. (2018) · Parkinson s Disease · doi:10.1155/2018/8684906 · Cited by 21 · see citing works
Decreased expression of the NADH:ubiquinone oxidoreductase (complex I) subunit 4 in 1-methyl-4-phenylpyridinium -treated human neuroblastoma SH-SY5Y cells
Conn, K. J., Ullman, M. D., Eisenhauer, P. B., Fine, R. E., & Wells, J. M. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(01)01888-2 · Cited by 21 · see citing works
Parkinson’s Genetics: Molecular Insights for the New Millennium
Skipper, L. M., & Farrer, M. J. (2002) · NeuroToxicology · doi:10.1016/s0161-813x(02)00038-4 · Cited by 21 · see citing works
Molecular characterization of mtDNA depleted and repleted NT2 cell lines
Binder, D. R., Dunn, W. H., & Swerdlow, R. H. (2005) · Mitochondrion · doi:10.1016/j.mito.2005.04.003 · Cited by 20 · see citing works
OXPHOS toxicogenomics and Parkinson's disease
López‐Gallardo, E., Iceta, R., Iglesias, E., Montoya, J., & Ruiz‐Pesini, E. (2011) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2011.06.004 · Cited by 19 · see citing works
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations
Zhunina, O. A., Yabbarov, N. G., Grechko, A. V., Yet, S.-F., Sobenin, I. A., & Orekhov, A. N. (2020) · Current Pharmaceutical Design · doi:10.2174/1381612825666191122091320 · Cited by 19 · see citing works
Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
Legati, A., & Ghezzi, D. (2023) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-023-01260-8 · Cited by 16 · see citing works
Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease?
Clark, J., Dai, Y., & Simon, D. K. (2011) · Parkinson s Disease · doi:10.4061/2011/659694 · Cited by 16 · see citing works
Self-citation
Chapter 4 Leber's Hereditary Optic Neuropathy
Carelli, V. (2002) · Blue books of practical neurology · doi:10.1016/s1877-3419(09)70063-7 · Cited by 16 · see citing works
Clinical Overview and Phenomenology of Movement Disorders
Fahn, S., Jankovic, J. J., Hallett, M., & Jenner, P. G. (2007) · Elsevier eBooks · doi:10.1016/b978-0-443-07941-2.50004-8 · Cited by 12 · see citing works
Spectrum of movement disorders in mitochondrial diseases
Musumeci, O., Oteri, R., & Toscano, A. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.22 · Cited by 12 · see citing works
Is there a pathogenic role for mitochondria in Parkinson's disease?
Vives-Bauzá, C., de Vries, R. L. A., Tocilescu, M. A., & Przedborski, S. (2009) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(09)70823-5 · Cited by 12 · see citing works
A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?
Simon, D. K., Tarnopolsky, M. A., Greenamyre, J. T., & Johns, D. R. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.1.58 · Cited by 11 · see citing works
Self-citation
Pallidopyramidal disease: A misnomer?
Horstink, M. W. I. M., Dekker, M. C. J., Montagna, P., Bonifati, V., & van de Warrenburg, B. P. C. (2010) · Movement Disorders · doi:10.1002/mds.23118 · Cited by 11 · see citing works
Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON)
Vital, C., Julien, J., Martin‐Négrier, M., Lagueny, A., Ferrer, X., & Vital, A. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.03.011 · Cited by 10 · see citing works
Movement disorders in mitochondrial disease: a clinicopathological correlation
Flønes, I. H., & Tzoulis, C. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000583 · Cited by 10 · see citing works
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 · see citing works
Mitochondria in neurodegeneration
Beal, M. F. (2002) · Springer eBooks · doi:10.1007/978-2-8178-0929-8_3 · Cited by 10 · see citing works
Self-citation
Insulin and Insulin-Sensitizing Drugs in Neurodegeneration: Mitochondria as Therapeutic Targets
Cardoso, S., Santos, R. X., Correia, S. C., Carvalho, C., Zhu, X., Lee, H., Casadesús, G., Smith, M. A., Perry, G. L., & Moreira, P. I. (2009) · Pharmaceuticals · doi:10.3390/ph2030250 · Cited by 9 · see citing works

Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation
Riggs, J. E., Ellis, B. D., Hogg, J. P., Al-Azzaz, A., & Schochet, S. S. (2001) · Neurology · doi:10.1212/wnl.56.4.570 · Cited by 4 · see citing works
Review Article Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson’s Disease?
Clark, J., Dai, Y., & Simon, D. K. (2011)
Self-citation
Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports
Siciliano, G. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.71.5.685 · Cited by 38 · see citing works
Absence of the Mitochondrial A7237T Mutation in Parkinson′s Disease
Lucking, C. B., Kösel, S., Mehraein, P., & Graeber, M. B. (1995) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1995.1868 · Cited by 21 · see citing works
Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson’s disease
Simon, D. K., Mayeux, R. P., Marder, K. S., Kowall, N. W., Beal, M. F., & Johns, D. R. (2000) · Neurology · doi:10.1212/wnl.54.3.703 · Cited by 106 · see citing works
Self-citation

Authors: Simon, D. K., Pulst, S. M., Sutton, J. P., Browne, S. E., Beal, M. F., & Johns, D. R.
Affiliations: Cedars-Sinai Medical Center (US)
ORCID: Simon, D.K.
Pulst, S.M.
Browne, S.E.
Beal, M.F.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 1999-11
Volume: 53
Issue: 8
Pages: 1787-1787
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.53.8.1787
OpenAlex: W1976450563
Cited by: 141
References: 36
Citations by year: 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 7 · 2018: 7 · 2017: 3 · 2016: 6 · 2015: 1 · 2014: 5 · 2013: 6 · 2012: 3
FWCI: 6.99
Type: journal article
Language: en
Open access: closed
Locations: Neurology (publishedVersion)
PubMed (publishedVersion)
Funders: U.S. Department of Veterans Affairs
National Institutes of Health (5k08ns001971-03, 5r01ey010864-04)
National Eye Institute (R01 EY10864)
National Institute on Deafness and Other Communication Disorders (R01DC003401)
National Institute of Neurological Disorders and Stroke (1K08NS01971)
Topics: Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: mitochondrial DNA mutations, parkinsonism, maternally inherited disease, ND4 gene, complex I dysfunction, heteroplasmy, Leber's hereditary optic neuropathy, familial neurodegeneration, levodopa response
MeSH terms: Base Sequence, Brain, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Pedigree, Genome, Point Mutation, Parkinsonian Disorders

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

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks