Mitochondrial encephalomyopathy of late presentation with progressive ophthalmoplegia, tremor and diffuse leukoencephalopathy;Encefalomiopatia mitocondrial de presentacion tardia, con oftalmoplejia externa progresiva, temblor y leucoencefalopatia difusa

Neurologia

Volumn 14, Issue 9, 1999, Pages 463-466

  Franco, E ^a   Bautista, J ^a   Luque, R ^a   Chinchon I ^a   Garcia Lozano R ^a   Aguilera, I ^a   Campos, Y ^b   Arenas, J ^b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Leukoencephalopathy; Mitochondrial encephalomyopathy; Progressive external ophthalmoplegia; Ragged red fibers; Tremor

Indexed keywords

LACTIC ACID; PYRUVIC ACID;

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; ENCEPHALOMYOPATHY; FEMALE; HUMAN; HUMAN TISSUE; KEARNS SAYRE SYNDROME; LEUKOENCEPHALOPATHY; METABOLISM; MUSCLE BIOPSY; ONSET AGE; OPHTHALMOPLEGIA; PTOSIS; RESPIRATORY CHAIN; TREMOR; BIOPSY; BRAIN; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SKELETAL MUSCLE;

BIOPSY; BRAIN; FEMALE; HUMANS; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; TREMOR;

EID: 0032714431     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995; 242: 304-312.
2. Truong DD, Harding AE, Scaravilli F, Smith SJM, Morgan-Hughes JA, Marsden CD. Movement disorders in nitochondrial myopathies. Movement Disorders 1990; 5: 109-117.
3. Hanna MG, Bhatia KP. Movement disorders and mitochondrial dysfunction. Curr Opin Neurol 1997; 10: 351-356.
4. Checcarelli N, Prelle A, Moggio M, Comi G, Bresolin N, Papadimitriou A et al. Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. J Neurol Sci 1994; 123: 74-79.
5. Chalmers RM, Brockington M, Howard RS, Lecky BRF, Morgan-Hughes JA, Harding AE. Mitochondrial encephalomyopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 1996; 143: 41-45.
6. Sandhu FS, Dillon WP. MR demonstration of leukoencephalopathy associated with mitochondrial encephalomyopathy: case report. AJNR 1991; 12: 375-379.
7. Huang CC, Way YY, Chu NS, Liou CW, Pang CY, Shih KD et al. Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. Eur Neurol 1995; 35: 199-205.
8. Viejo N, Teruel J, Genis D, Dávalos A. Signos radiológicos específicos en el síndrome de encefalomiopatía mitocondrial con acidosis láctica e isquemia cerebral. Med Clin (Barc) 1993; 100: 195-196.
9. Nakagawa M, Kaminishi Y, Isashiki Y, Yamada H, Higuchi I, Uchida Y, Osame M. Familial mitochondrial encephalomiopathy with deaf-mutism, ophthalmoplegia and leukodystrophy. Acta Neurol Scand 1995; 92: 102-108.
10. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721-727.
11. Van der Knaap MS, Valk J, De Neeling N, Nauta JJP. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991; 33: 478-493.
12. Di Mauro S, Servidei S, Zeviani M, Di Rocco M, De Vivo DC, Di Donato S et al. Cytochrome C oxidase deficiency in Leigh Syndrome. Ann Neurol 1987; 22: 498-506.
13. Wallace DC, Lott MT, Brown MD, Huoponen K, Torroni A. Report of the committeee on human mitochondrial DNA. En: Cuticchia AJ, editor. Human gene mapping: a compendium. Baltimore: Johns Hopkins University Press, 1995; 910-954.
14. Guerrero A, Castro M, Martín-Estefanía C. Aspectos clínicos de las enfermedades mitocondriales. Rev Neurol 1998; 26 (Supl 1): 50-60.
15. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Euro Neurol 1996; 36: 260-267.
16. Arpa J, Campos Y, Cruz-Martínez A, Gutiérrez-Molina M, Arenas J, Alonso M et al. Abordajes clínico y paraclínico de las enfermedades mitocondriales. Estudio de 15 casos. Neurología 1994; 9: 324-336.
17. Kawai H, Akaike M, Yokoi K, Nishida Y, Kunishige M, Mine H, Saito S. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic of mitochondrial diseases. Muscle Nerve 1995; 18: 753-760.
18. Chalmers RM, Harding AE. A case-control study of Leber's hereditary optic neuropathy. Brain 1996; 119: 1.481-1.486.
19. Chatkupt S, Wolansky LJ, Jotkowitz A, Shih LY, Cook SD. Spinocerebellar degeneration and cerebral hypomyelination in a family. Am J Med Genet 1995; 60: 188-191.