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Academia Mexicana de Neurología, A.C.

2013, Number 4

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Rev Mex Neuroci 2013; 14 (4)

Cognitive impairment and clinical heterogeneity in mitochondrial myopathies

Corrales-Arroyo MJ, López-Gallardo G

Language: Spanish
References: 14
Page: 223-225
PDF size: 106.66 Kb.


ABSTRACT

Introduction: Mitochondrial diseases are a diverse group of entities resulting from the genetic alteration or structural biochemistry of the mitochondria.
Objective: To highlight the complexity in the diagnosis of mitochondrial diseases and the high level of clinical suspicion involved.
Case Report: We present the case of a 46-year-old man with a relatively atypical course, clinically followed for years in neurology consultation and for whom a precise diagnosis was reached much later.
Conclusion: The clinical findings and additional studies are the tools that enable the accurate diagnosis of mitochondrial myopathy. Even in some cases, in the absence of classical findings this diagnosis cannot completely be ruled out.


REFERENCES

  1. Roper A, Samuels M. Enfermedades metabólicas hereditarias del sistema nervioso. En: Adams y Victor, principios de Neurología. 9a. Ed. Mc Graw Hill; 2011, 904-59.

  2. Bradley W, Darrof R. Trastornos mitocondriales. En: Neurología clínica. 5ta. Edición. Eservier; 2010, p. 1997-810.

  3. DiMauro S, Bonilla E, Lombes A, Shanske S, Minetti C, Moraes C. Mitochondrial encephalomyopathies. Neurol Clin 1990; 8: 483.

  4. Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986; 109: 915-38.

  5. Zeviani M, Klopstock T. Mitochondrial disorders. Curr Opin Neurol 2001; 14: 553-60.

  6. Mecocci P, MacGarvey U, Beal MF. Oxidative damage to mitochondrial DNA is increased in Alzheimer’s disease. Ann Neurol 1994; 36: 747.

  7. Shoffner JM, Brown MD, Torroni A et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 1993; 17: 171.

  8. Shoffner JM, Lott MT, Lezza AMS, Seibel P, Bsallinger SW, Wallace DC. Myoclonic epilepsy and ragged red fibres disease (MERRF) is associated with a mitochondrial DNA tRNA mutation. Cell 199; 61: 931.

  9. Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996; 19: 521-7.

  10. DiMauro S, Moraes CT. Mitichondrial encephalomyopathies. Arch Neurol 1993; 50: 1197-208.

  11. Montoya J, Playan A, Solano A, Alcaine MJ, Lopez-Perez MJ, Perez-Martos A. Enfermedades del ADN mitocondrial. Rev Neurol 2000; 31: 324.

  12. Shoubridge EA. Mitochondrial encephalomyiopathies. Curr Opin Neurol 1998; 11: 491-6.

  13. Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995; 333: 638-44.

  14. Van Coster R, De Meirleir L. Mitochondrial cytopathies and neuromuscular disorders. Aqcta Neurol Belg 200; 100: 156-61.




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