Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6
Joint Authors
Brum, Marisa
Semedo, Cristina
Guerreiro, Rui
Pinto Marques, José
Source
Case Reports in Neurological Medicine
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-12-08
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Brum, Marisa& Semedo, Cristina& Guerreiro, Rui& Pinto Marques, José. 2014. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
Modern Language Association (MLA)
Brum, Marisa…[et al.]. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
American Medical Association (AMA)
Brum, Marisa& Semedo, Cristina& Guerreiro, Rui& Pinto Marques, José. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6. Case Reports in Neurological Medicine. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1017309
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1017309