13 results on '"Carelli, V."'
Search Results
2. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
- Author
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Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, and Carelli V
- Published
- 2004
3. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
- Author
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Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, and Carelli V
- Published
- 2004
4. ATPase Domain <scp> AFG3L2 </scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy
- Author
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Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca, Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M.L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M.L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S.B., Fang M., Synofzik M., Ghezzi D., Carelli V., and Taroni F.
- Subjects
Male ,0301 basic medicine ,DOA ,Gene mutation ,medicine.disease_cause ,ATP-Dependent Proteases ,ATPases Associated with Diverse Cellular Activities ,Adolescent ,Adult ,Aged ,Child ,Female ,GTP Phosphohydrolases ,Genetic Testing ,High-Throughput Nucleotide Sequencing ,Humans ,Middle Aged ,Mutation ,Optic Atrophy ,Optic Nerve Diseases ,Pedigree ,Whole Exome Sequencing ,Young Adult ,OPA1 ,genetics [Optic Atrophy] ,Optic neuropathy ,0302 clinical medicine ,genetics [ATPases Associated with Diverse Cellular Activities] ,Research Articles ,Exome sequencing ,Genetics ,genetics [Optic Nerve Diseases] ,Neurology ,Spinocerebellar ataxia ,medicine.symptom ,Research Article ,genetics [GTP Phosphohydrolases] ,Spastic gait ,Ataxia ,Biology ,SCA28 ,03 medical and health sciences ,Atrophy ,Exome Sequencing ,medicine ,ddc:610 ,AFG3L2 ,medicine.disease ,eye diseases ,optic neuropathy ,030104 developmental biology ,genetics [ATP-Dependent Proteases] ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. Methods We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted next generation sequencing or whole exome sequencing. Pathogenicity and molecular mechanisms of the identified variants were studied in yeast and patient-derived fibroblasts. Results Twelve cases (4%) were found to carry novel variants in AFG3L2, a gene that has been associated with autosomal dominant spinocerebellar ataxia 28 (SCA28). Half of cases were familial with a dominant inheritance, whereas the others were sporadic, including de novo mutations. Biallelic mutations were found in 3 probands with severe syndromic optic neuropathy, acting as recessive or phenotype-modifier variants. All the DOA-associated AFG3L2 mutations were clustered in the ATPase domain, whereas SCA28-associated mutations mostly affect the proteolytic domain. The pathogenic role of DOA-associated AFG3L2 mutations was confirmed in yeast, unraveling a mechanism distinct from that of SCA28-associated AFG3L2 mutations. Patients' fibroblasts showed abnormal OPA1 processing, with accumulation of the fission-inducing short forms leading to mitochondrial network fragmentation, not observed in SCA28 patients' cells. Interpretation This study demonstrates that mutations in AFG3L2 are a relevant cause of optic neuropathy, broadening the spectrum of clinical manifestations and genetic mechanisms associated with AFG3L2 mutations, and underscores the pivotal role of OPA1 and its processing in the pathogenesis of DOA. ANN NEUROL 2020 ANN NEUROL 2020;88:18-32.
- Published
- 2020
5. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy
- Author
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Bruno Barbiroli, Laura Bucchi, Valerio Carelli, Anna Ghelli, Alessandro Achilli, MariaTeresa Dotti, Agostino Baruzzi, Piero Barboni, Maria Lucia Valentino, C. Rengo, Alessandra Lugaresi, Antonio Federico, Raffaele Lodi, Antonio Torroni, VALENTINO ML, BARBONI P, GHELLI A, BUCCHI L, RENGO C, ACHILLI A, TORRONI A, LUGARESI A, LODI R, BARBIROLI B, DOTTI M, FEDERICO A, BARUZZI A., and CARELLI V.
- Subjects
Male ,Models, Molecular ,Magnetic Resonance Spectroscopy ,DNA Mutational Analysis ,Visual Acuity ,Mitochondrion ,Haplogroup ,Optic neuropathy ,Sequence Analysis, Protein ,Leber, Mutation ,Genetics ,medicine.diagnostic_test ,biology ,mtDNA ,Leber's hereditary optic neuropathy ,NADH dehydrogenase ,Middle Aged ,Heteroplasmy ,Pedigree ,Succinate Dehydrogenase ,Neurology ,Female ,Occipital Lobe ,Polymorphism, Restriction Fragment Length ,Adult ,Mitochondrial DNA ,Glutamic Acid ,Optic Atrophy, Hereditary, Leber ,DNA, Mitochondrial ,Inhibitory Concentration 50 ,LHON ,Microscopy, Electron, Transmission ,Rotenone ,medicine ,Humans ,Ferricyanides ,Muscle, Skeletal ,Radionuclide Imaging ,Gene ,Aged ,Family Health ,Muscle biopsy ,Lysine ,Haplotype ,nutritional and metabolic diseases ,NADH Dehydrogenase ,NAD ,medicine.disease ,Molecular biology ,eye diseases ,Mitochondria, Muscle ,Ophthalmology ,Haplotypes ,Mutation ,biology.protein ,Neurology (clinical) ,Visual Fields - Abstract
A novel mitochondrial DNA (mtDNA) transition (3733G-->A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1) was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON) and in an unrelated sporadic case, all negative for known mutations and presenting with the canonical phenotype. The transition was not detected in 1,082 control mtDNAs and was heteroplasmic in several individuals from both pedigrees. In addition, the mtDNAs of the two families were found to belong to different haplogroups (H and X), thus confirming that the 3733G-->A mutation occurred twice independently. Phosphorus magnetic resonance spectroscopy disclosed an in vivo brain and skeletal muscle energy metabolism deficit in the four examined patients. Muscle biopsy from two patients showed slight mitochondrial proliferation with abnormal mitochondria. Biochemical investigations in platelets showed partially insensitive complex 1 to rotenone inhibition. We conclude that the 3733G-->A transition is a novel cause of LHON and, after those at positions 3460 and 4171, is the third ND1 mutation to be identified in multiple unrelated families. This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON.
- Published
- 2004
6. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
- Author
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Piero Barboni, Valeria Clementi, Stefano Iotti, Lora Longanesi, Bruno Barbiroli, Bernd Wissinger, Valerio Carelli, Simone Schimpf, Raffaele Lodi, Agostino Baruzzi, Caterina Tonon, Maria Lucia Valentino, Emil Malucelli, LODI R, TONON C, VALENTINO ML, IOTTI S, CLEMENTI V, MALUCELLI E, BARBONI P, LONGANESI L, SCHIMPF S, WISSINGER B, BARUZZI A., BARBIROLI B, and CARELLI V.
- Subjects
Adult ,Male ,endocrine system ,medicine.medical_specialty ,Magnetic Resonance Spectroscopy ,Time Factors ,Adolescent ,Phosphocreatine ,DNA Mutational Analysis ,GTPase ,Oxidative phosphorylation ,Biology ,Mitochondrion ,GTP Phosphohydrolases ,Exon ,chemistry.chemical_compound ,Atrophy ,Adenosine Triphosphate ,In vivo ,Internal medicine ,Optic Atrophy, Autosomal Dominant ,medicine ,Humans ,Gene ,Aged ,Sequence Deletion ,Family Health ,Exons ,Middle Aged ,medicine.disease ,eye diseases ,Cell biology ,Mitochondria, Muscle ,Ophthalmology ,Endocrinology ,Neurology ,chemistry ,Female ,Neurology (clinical) ,Mitochondrial optic neuropathies ,Adenosine triphosphate - Abstract
Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin-related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated families carrying the c.2708-2711delTTAG deletion in exon 27 of the OPA1 gene. The rate of postexercise phosphocreatine resynthesis, a measure of mitochondrial adenosine triphosphate production rate, was significantly delayed in the patients. Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA.
- Published
- 2004
7. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Author
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Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, and Taroni F
- Subjects
- Adolescent, Adult, Aged, Child, Female, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Pedigree, Exome Sequencing, Young Adult, ATP-Dependent Proteases genetics, ATPases Associated with Diverse Cellular Activities genetics, GTP Phosphohydrolases genetics, Optic Atrophy genetics, Optic Nerve Diseases genetics
- Abstract
Objective: Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed., Methods: We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted next generation sequencing or whole exome sequencing. Pathogenicity and molecular mechanisms of the identified variants were studied in yeast and patient-derived fibroblasts., Results: Twelve cases (4%) were found to carry novel variants in AFG3L2, a gene that has been associated with autosomal dominant spinocerebellar ataxia 28 (SCA28). Half of cases were familial with a dominant inheritance, whereas the others were sporadic, including de novo mutations. Biallelic mutations were found in 3 probands with severe syndromic optic neuropathy, acting as recessive or phenotype-modifier variants. All the DOA-associated AFG3L2 mutations were clustered in the ATPase domain, whereas SCA28-associated mutations mostly affect the proteolytic domain. The pathogenic role of DOA-associated AFG3L2 mutations was confirmed in yeast, unraveling a mechanism distinct from that of SCA28-associated AFG3L2 mutations. Patients' fibroblasts showed abnormal OPA1 processing, with accumulation of the fission-inducing short forms leading to mitochondrial network fragmentation, not observed in SCA28 patients' cells., Interpretation: This study demonstrates that mutations in AFG3L2 are a relevant cause of optic neuropathy, broadening the spectrum of clinical manifestations and genetic mechanisms associated with AFG3L2 mutations, and underscores the pivotal role of OPA1 and its processing in the pathogenesis of DOA. ANN NEUROL 2020 ANN NEUROL 2020;88:18-32., (© 2020 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.)
- Published
- 2020
- Full Text
- View/download PDF
8. Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
- Author
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De Giorgio R, Pironi L, Rinaldi R, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Contin M, D'Angelo R, D'Errico A, Gramegna LL, Lodi R, Maresca A, Mohamed S, Morelli MC, Papa V, Tonon C, Tugnoli V, Carelli V, D'Alessandro R, and Pinna AD
- Subjects
- Adult, Humans, Male, Muscular Dystrophy, Oculopharyngeal, Ophthalmoplegia congenital, Intestinal Pseudo-Obstruction surgery, Liver Transplantation methods, Mitochondrial Encephalomyopathies surgery
- Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE. Ann Neurol 2016;80:448-455., (© 2016 American Neurological Association.)
- Published
- 2016
- Full Text
- View/download PDF
9. Melanopsin retinal ganglion cell loss in Alzheimer disease.
- Author
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La Morgia C, Ross-Cisneros FN, Koronyo Y, Hannibal J, Gallassi R, Cantalupo G, Sambati L, Pan BX, Tozer KR, Barboni P, Provini F, Avanzini P, Carbonelli M, Pelosi A, Chui H, Liguori R, Baruzzi A, Koronyo-Hamaoui M, Sadun AA, and Carelli V
- Subjects
- Actigraphy, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Rod Opsins metabolism, Tomography, Optical Coherence, Alzheimer Disease complications, Alzheimer Disease pathology, Alzheimer Disease physiopathology, Amyloid beta-Peptides metabolism, Axons pathology, Chronobiology Disorders etiology, Chronobiology Disorders physiopathology, Optic Nerve pathology, Retinal Ganglion Cells metabolism, Retinal Ganglion Cells pathology
- Abstract
Objective: Melanopsin retinal ganglion cells (mRGCs) are photoreceptors driving circadian photoentrainment, and circadian dysfunction characterizes Alzheimer disease (AD). We investigated mRGCs in AD, hypothesizing that they contribute to circadian dysfunction., Methods: We assessed retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in 21 mild-moderate AD patients, and in a subgroup of 16 we evaluated rest-activity circadian rhythm by actigraphy. We studied postmortem mRGCs by immunohistochemistry in retinas, and axons in optic nerve cross-sections of 14 neuropathologically confirmed AD patients. We coimmunostained for retinal amyloid β (Aβ) deposition and melanopsin to locate mRGCs. All AD cohorts were compared with age-matched controls., Results: We demonstrated an age-related optic neuropathy in AD by OCT, with a significant reduction of RNFL thickness (p = 0.038), more evident in the superior quadrant (p = 0.006). Axonal loss was confirmed in postmortem AD optic nerves. Abnormal circadian function characterized only a subgroup of AD patients. Sleep efficiency was significantly reduced in AD patients (p = 0.001). We also found a significant loss of mRGCs in postmortem AD retinal specimens (p = 0.003) across all ages and abnormal mRGC dendritic morphology and size (p = 0.003). In flat-mounted AD retinas, Aβ accumulation was remarkably evident inside and around mRGCs., Interpretation: We show variable degrees of rest-activity circadian dysfunction in AD patients. We also demonstrate age-related loss of optic nerve axons and specifically mRGC loss and pathology in postmortem AD retinal specimens, associated with Aβ deposition. These results all support the concept that mRGC degeneration is a contributor to circadian rhythm dysfunction in AD., (© 2015 American Neurological Association.)
- Published
- 2016
- Full Text
- View/download PDF
10. Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
- Author
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Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, and Zeviani M
- Subjects
- Aged, Dementia complications, Female, Genetic Predisposition to Disease, Humans, Italy, Male, Ophthalmoplegia, Chronic Progressive External complications, Parkinsonian Disorders complications, Pedigree, Dementia genetics, GTP Phosphohydrolases genetics, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External genetics, Parkinsonian Disorders genetics
- Abstract
Objective: Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutations in the mitochondrial fusion genes OPA1 and MFN2 in the pathogenesis of multisystem syndromes characterized by neurodegeneration and accumulation of mtDNA multiple deletions in postmitotic tissues. Here, we report 2 Italian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and dementia., Methods: Patients were extensively studied by optical coherence tomography (OCT) to assess retinal nerve fibers, and underwent muscle and brain magnetic resonance spectroscopy (MRS), and muscle biopsy and fibroblasts were analyzed. Candidate genes were sequenced, and mtDNA was analyzed for rearrangements., Results: Affected individuals displayed a slowly progressive syndrome characterized by CPEO, mitochondrial myopathy, sensorineural deafness, peripheral neuropathy, parkinsonism, and/or cognitive impairment, in most cases without visual complains, but with subclinical loss of retinal nerve fibers at OCT. Muscle biopsies showed cytochrome c oxidase-negative fibers and mtDNA multiple deletions, and MRS displayed defective oxidative metabolism in muscle and brain. We found 2 heterozygous OPA1 missense mutations affecting highly conserved amino acid positions (p.G488R, p.A495V) in the guanosine triphosphatase domain, each segregating with affected individuals. Fibroblast studies showed a reduced amount of OPA1 protein with normal mRNA expression, fragmented mitochondria, impaired bioenergetics, increased autophagy and mitophagy., Interpretation: The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism., (© 2015 The Authors Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.)
- Published
- 2015
- Full Text
- View/download PDF
11. Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.
- Author
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Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V, Martinuzzi A, Hauswirth WW, and Lewin AS
- Subjects
- Adenosine Triphosphate biosynthesis, Cell Survival, Cells, Cultured, Dependovirus genetics, Electron Transport Complex I, Gene Transfer Techniques, Genetic Vectors, Humans, Hybrid Cells physiology, NADH, NADPH Oxidoreductases genetics, NADH, NADPH Oxidoreductases metabolism, Optic Atrophy, Hereditary, Leber metabolism, Oxidative Phosphorylation, Sequence Tagged Sites, DNA, Mitochondrial genetics, Genetic Therapy, Optic Atrophy, Hereditary, Leber genetics, Optic Atrophy, Hereditary, Leber therapy, Point Mutation
- Abstract
A G to A transition at nucleotide 11778 in the ND4 subunit gene of complex I was the first point mutation in the mitochondrial genome linked to a human disease. It causes Leber Hereditary Optic Neuropathy, a disorder with oxidative phosphorylation deficiency. To overcome this defect, we made a synthetic ND4 subunit compatible with the "universal" genetic code and imported it into mitochondria by adding a mitochondrial targeting sequence. For detection we added a FLAG tag. This gene was inserted in an adeno-associated viral vector. The ND4FLAG protein was imported into the mitochondria of cybrids harboring the G11778A mutation, where it increased their survival rate threefold, under restrictive conditions that forced the cells to rely predominantly on oxidative phosphorylation to produce ATP. Since assays of complex I activity were normal in G11778A cybrids we focused on changes in ATP synthesis using complex I substrates. The G11778A cybrids showed a 60% reduction in the rate of ATP synthesis. Relative to mock-transfected G11778A cybrids, complemented G11778A cybrids showed a threefold increase in ATP synthesis, to a level indistinguishable from that in cybrids containing normal mitochondrial DNA. Restoration of respiration by allotopic expression opens the door for gene therapy of Leber Hereditary Optic Neuropathy.
- Published
- 2002
- Full Text
- View/download PDF
12. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
- Author
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Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, and Carelli V
- Subjects
- Adolescent, Adult, Child, Electron Transport Complex I, Female, Humans, Italy, Male, Optic Atrophy, Hereditary, Leber physiopathology, Pedigree, Polymorphism, Restriction Fragment Length, Visual Fields, DNA, Mitochondrial genetics, Mutation, NADH, NADPH Oxidoreductases genetics, Optic Atrophy, Hereditary, Leber genetics
- Abstract
A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.
- Published
- 2002
- Full Text
- View/download PDF
13. Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores.
- Author
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Avoni P, Monari L, Carelli V, Carcangiu R, Barboni P, Donati C, Badiali L, Baruzzi A, and Montagna P
- Subjects
- Adult, Epilepsy complications, Female, Humans, Magnetic Resonance Imaging, Muscles pathology, Thalamic Nuclei pathology, Basal Ganglia Diseases complications, Brain Diseases congenital, Chorioretinitis complications, Epilepsy pathology
- Abstract
A woman had severe psychomotor retardation, epilepsy, rigidity, and chorioretinitis. Magnetic resonance imaging showed cerebellar and cerebral atrophy and hypointensities in T2-weighted images of the thalami and basal ganglia. Muscle biopsy documented size variations in rounded muscle fibers, fibrosis, and minicores on electron microscopy. Merosin staining was normal. These hitherto unreported features do not permit classification of our patient within the current types of encephalomyopathy and congenital muscular dystrophies.
- Published
- 2000
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