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Page 1
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Ke …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO …
Inherited mitochondrial neuropathies.
Finsterer J. Finsterer J. J Neurol Sci. 2011 May 15;304(1-2):9-16. doi: 10.1016/j.jns.2011.02.012. Epub 2011 Mar 13. J Neurol Sci. 2011. PMID: 21402391 Review.
MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ophthalmoplegia due to POLG1 mutatio …
MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MF …
NARP syndrome and adult-onset generalised seizures.
Keränen T, Kuusisto H. Keränen T, et al. Epileptic Disord. 2006 Sep;8(3):200-3. Epileptic Disord. 2006. PMID: 16987741 Free article.
The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. ...At the age of 21, the patient developed progressive ataxia and she also experienced a tonic-cl …
The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributabl …
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Debray FG, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. doi: 10.1002/ajmg.a.31880. Am J Med Genet A. 2007. PMID: 17663470 Review.
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity of the neurolog …
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndro …
NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation.
Wojewoda M, Duszyński J, Szczepanowska J. Wojewoda M, et al. Int J Biochem Cell Biol. 2011 Aug;43(8):1178-86. doi: 10.1016/j.biocel.2011.04.011. Epub 2011 Apr 28. Int J Biochem Cell Biol. 2011. PMID: 21550418
These subtle changes in mitochondrial biogenesis in response to selenite treatment support the hypothesis that selenite could be considered as a potential therapeutic agent of NARP syndrome due to its antioxidant properties. Moreover, it could also be tested with re …
These subtle changes in mitochondrial biogenesis in response to selenite treatment support the hypothesis that selenite could be considered …
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
Tsao CY, Mendell JR, Bartholomew D. Tsao CY, et al. J Child Neurol. 2001 Jul;16(7):533-5. doi: 10.1177/088307380101600716. J Child Neurol. 2001. PMID: 11453454
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. Typically, NARP syndrome is characterized by d …
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated wi …
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.
Lemoine S, Panaye M, Rabeyrin M, Errazuriz-Cerda E, Mousson de Camaret B, Petiot P, Juillard L, Guebre-Egziabher F. Lemoine S, et al. Am J Kidney Dis. 2018 May;71(5):754-757. doi: 10.1053/j.ajkd.2017.09.020. Epub 2017 Dec 8. Am J Kidney Dis. 2018. PMID: 29224958
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. .. …
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) s …
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
Mordel P, Schaeffer S, Dupas Q, Laville MA, Gérard M, Chapon F, Allouche S. Mordel P, et al. Biochem Biophys Res Commun. 2017 Dec 9;494(1-2):133-137. doi: 10.1016/j.bbrc.2017.10.066. Epub 2017 Oct 18. Biochem Biophys Res Commun. 2017. PMID: 29054413
In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome....
In conclusion, we demonstrated that this novel AT deletion in the ATP6 gene is pathogenic and responsible for the NARP syndrome …
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
Blanco-Grau A, Bonaventura-Ibars I, Coll-Cantí J, Melià MJ, Martinez R, Martínez-Gallo M, Andreu AL, Pinós T, García-Arumí E. Blanco-Grau A, et al. Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089. Epub 2013 Oct 25. Genes Brain Behav. 2013. PMID: 24118886 Free article.
Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis, coronary atherosclerosis risk and neuropathy, ataxia and retinitis pigmentosa (NARP)/maternally inherited Leigh syndromes. Here, we present a patient with …
Mutations in the ATP6 gene are reported to be associated with Leber hereditary optic neuropathy, bilateral striatal necrosis, coronary ather …
Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.
Rabinovich M, Zambrowski O, Miere A, Bhouri R, Souied E. Rabinovich M, et al. Ophthalmic Genet. 2024 Apr;45(2):193-200. doi: 10.1080/13816810.2023.2253905. Epub 2023 Sep 6. Ophthalmic Genet. 2024. PMID: 37671548
RESULTS: All patients had the clinical manifestations of NARP syndrome, which were variably expressed symptomatically, on the fundus exams, electroretinogram, and visual fields. CONCLUSIONS: Once genetically established, NARP syndrome, as other mitocho …
RESULTS: All patients had the clinical manifestations of NARP syndrome, which were variably expressed symptomatically, on the …
13 results