scholarly journals Adult-Onset Leigh Syndrome due to an m.13513G>A Mutation

2022 ◽  
Author(s):  
Hiroaki Hirosawa ◽  
Takamasa Nukui ◽  
Kyo Noguchi ◽  
Yuji Nakatsuji
Keyword(s):  
Leigh Syndrome ◽  
Adult Onset

scholarly journals Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

2018 ◽  
Vol 4 (6) ◽  
pp. e298
Author(s):  
Dimitri M. Hemelsoet ◽  
Arnaud V. Vanlander ◽  
Joél Smet ◽  
Elise Vantroys ◽  
Marjan Acou ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Polyacrylamide Gel Electrophoresis ◽  
Lactate Concentration ◽  
Leigh Syndrome ◽  
Protein Translation ◽  
Pathogenic Mutation ◽  
Molecular Characteristics ◽  
Emission Computed Tomography ◽  
Adult Onset ◽  
Cerebral Mri

ObjectiveTo report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by parkinsonism.MethodsCase description with diagnostic workup included blood and CSF analysis, skeletal muscle investigations, blue native polyacrylamide gel electrophoresis, whole exome sequencing targeting nuclear genes involved in mitochondrial transcription and translation, cerebral MRI, 123I-FP-CIT brain single-photon emission computed tomography (SPECT), and C-11 raclopride positron emission tomography (PET).ResultsThe participant was found to have a defect in the oxidative phosphorylation caused by a c.626C>T mutation in the gene coding for mitochondrial methionyl-tRNA formyltransferase (MTFMT), which is a pathogenic mutation affecting intramitochondrial protein translation. The proband had a normal concentration of lactate in blood and no abnormal microscopic findings in skeletal muscle. Cerebral MRI showed bilateral lesions in the striatum, mesencephalon, pons, and medial thalamus. Lactate concentration in CSF was increased. FP-CIT SPECT and C-11 raclopride PET demonstrated a defect in the dopaminergic system.ConclusionsWe report on a case with adult-onset LS related to a MTFMT mutation. Two years after the onset of symptoms of LS, the proband developed a parkinson-like disease. The c.626C>T mutation is the most common pathogenic mutation found in 22 patients reported earlier in the literature with a defect in MTFMT. The age of the previously reported cases varied between 14 months and 24 years. Our report expands the phenotypical spectrum of MTFMT-related neurologic disease and provides clinical evidence for involvement of MTFMT in extrapyramidal syndromes.

scholarly journals Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Mitochondrion ◽  
2019 ◽  
Vol 47 ◽  
pp. 294-297 ◽  
Author(s):  
Olivia V. Poole ◽  
Chris M. Everett ◽  
Sonia Gandhi ◽  
Silvia Marino ◽  
Enrico Bugiardini ◽  
...  
Keyword(s):  
Stop Codon ◽  
Leigh Syndrome ◽  
The Novel ◽  
Adult Onset ◽  
Stop Codon Mutation ◽  
Codon Mutation

scholarly journals Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

2015 ◽  
Vol 2 (4) ◽  
pp. 409-419 ◽  
Author(s):  
Maria Wesolowska ◽  
Grainne S. Gorman ◽  
Charlotte L. Alston ◽  
Aleksandra Pajak ◽  
Angela Pyle ◽  
...  
Keyword(s):  
Intensive Care ◽  
Mitochondrial Disease ◽  
Care Setting ◽  
Leigh Syndrome ◽  
Adult Onset ◽  
Intensive Care Setting

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

2009 ◽  
Vol 81 (1) ◽  
pp. 90-93 ◽  
Author(s):  
B Dermaut ◽  
S Seneca ◽  
L Dom ◽  
K Smets ◽  
L Ceulemans ◽  
...  
Keyword(s):  
Leigh Syndrome ◽  
Myoclonic Epilepsy ◽  
Adult Onset ◽  
Progressive Myoclonic Epilepsy

Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation

2014 ◽  
Vol 21 (11) ◽  
pp. 2009-2011 ◽  
Author(s):  
Jee-Young Han ◽  
Jung-Joon Sung ◽  
Hong-Kyun Park ◽  
Byung-Nam Yoon ◽  
Kwang-Woo Lee
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Syndrome ◽  
Adult Onset

scholarly journals Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

2016 ◽  
Vol 8 ◽  
pp. 28-32 ◽  
Author(s):  
Miguel Chuquilin ◽  
Raghav Govindarajan ◽  
Dawn Peck ◽  
Esperanza Font-Montgomery
Keyword(s):  
Leigh Syndrome ◽  
Adult Onset ◽  
Mtdna Mutation

scholarly journals Fatigable ptosis as an initial presentation of adult-onset Leigh syndrome

Neurology ◽  
2017 ◽  
Vol 89 (16) ◽  
pp. 1754-1754 ◽  
Author(s):  
Eun Hye Oh ◽  
Song-Hwa Chae ◽  
Jae-Wook Cho ◽  
Seung Kug Baik ◽  
Seo-Young Choi ◽  
...  
Keyword(s):  
Leigh Syndrome ◽  
Initial Presentation ◽  
Adult Onset

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

2011 ◽  
Vol 412 (2) ◽  
pp. 245-248 ◽  
Author(s):  
Dario Ronchi ◽  
Andreina Bordoni ◽  
Alessandra Cosi ◽  
Mafalda Rizzuti ◽  
Elisa Fassone ◽  
...  
Keyword(s):  
Leigh Syndrome ◽  
Adult Onset

A young male with walking difficulties and subacute brainstem dysfunction: Adult-onset Leigh syndrome

2021 ◽  
Vol 429 ◽  
pp. 119363
Author(s):  
Elia Cipriano ◽  
Domizia Vecchio ◽  
Letizia Mazzini ◽  
Gionata Strigaro ◽  
Roberto Cantello ◽  
...  
Keyword(s):  
Young Male ◽  
Leigh Syndrome ◽  
Adult Onset ◽  
Brainstem Dysfunction

A mitochondrial DNA tRNAVal point mutation associated with adult-onset Leigh syndrome

Neurology ◽  
1997 ◽  
Vol 49 (2) ◽  
pp. 589-592 ◽  
Author(s):  
R. M. Chalmers ◽  
P. J. Lamont ◽  
I. Nelson ◽  
D. W. Ellison ◽  
N. H. Thomas ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Leigh Syndrome ◽  
Adult Onset
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