Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6
Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family hist...
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Wiley
2014-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/701761 |
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| author | Marisa Brum Cristina Semedo Rui Guerreiro José Pinto Marques |
| author_facet | Marisa Brum Cristina Semedo Rui Guerreiro José Pinto Marques |
| author_sort | Marisa Brum |
| collection | DOAJ |
| description | Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms. The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene. His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness. EMG showed axonal peripheral neuropathy. Conclusion. This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation. The present case contributes to the expansion of the phenotypic expressions of this particular mutation. |
| format | Article |
| id | doaj-art-b7d4c42ed2324f2f8b4bc11b5f0f20db |
| institution | DOAJ |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
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| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-b7d4c42ed2324f2f8b4bc11b5f0f20db2025-08-20T03:22:46ZengWileyCase Reports in Neurological Medicine2090-66682090-66762014-01-01201410.1155/2014/701761701761Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6Marisa Brum0Cristina Semedo1Rui Guerreiro2José Pinto Marques3Neurology Department, Centro Hospitalar de Setúbal, Rua Camilo Castelo Branco, 2910-446 Setúbal, PortugalNeurology Department, Centro Hospitalar de Setúbal, Rua Camilo Castelo Branco, 2910-446 Setúbal, PortugalNeurology Department, Centro Hospitalar de Setúbal, Rua Camilo Castelo Branco, 2910-446 Setúbal, PortugalNeurology Department, Centro Hospitalar de Setúbal, Rua Camilo Castelo Branco, 2910-446 Setúbal, PortugalBackground. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms. The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene. His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness. EMG showed axonal peripheral neuropathy. Conclusion. This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation. The present case contributes to the expansion of the phenotypic expressions of this particular mutation.http://dx.doi.org/10.1155/2014/701761 |
| spellingShingle | Marisa Brum Cristina Semedo Rui Guerreiro José Pinto Marques Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 Case Reports in Neurological Medicine |
| title | Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 |
| title_full | Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 |
| title_fullStr | Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 |
| title_full_unstemmed | Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 |
| title_short | Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6 |
| title_sort | motor neuron syndrome as a new phenotypic manifestation of mutation 9185t c in gene mtatp6 |
| url | http://dx.doi.org/10.1155/2014/701761 |
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