Encefalopatie mitocondriali in età pediatrica: Inquadramento nosografico

Adams PL Lightowlers RN : Molecular analysis of cytochrome c oxidase in Leigh's syndrome. Ann Neurol 41: 268–270, 1997.

Aicardi J Gordon N Hagberg B : Holes in the brain. Dev Med Child Neurol 27: 249–252, 1985.

Bruyn GW Vielvoye GJ Went LN : Hereditary spastic dystonia: A new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci 103: 195–202, 1991.

Cavanagh JB Harding BN : Pathogenetic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117: 1357–1376, 1994.

De Meirleir L Seneca S : Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Ann Neurol 36: 522, 1994.

De Vries DD Baziel GM : A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 34: 410–412, 1993.

De Vries DD Went LN : Genetic and biochemical inpairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58: 703–711, 1996.

Di Mauro S Bonilla E : Mitochondrial myopathies. Ann Neurol 17: 521–538, 1985.

Di Mauro S Servidei S : Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22: 498–506, 1987.

Di Mauro S De Vivo DC : Genetic heterogeneity in Leigh syndrome. Ann Neurol 40: 5–7, 1996.

Dionisi-Vici C Seneca S : Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inher Metab Dis 21: 2–8, 1988.

Friede RL : Developmental Neuropathology. Springer, Vienna 1975: 88–89.

Holt IJ Harding AE : A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46: 428–433, 1990.

Jun AS Brown MD Wallace DC : A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci 91: 6206–6210, 1994.

Kesserling J Miller DH : Acute disseminated encephalomyelitis. MRI findings and the distinction from multiple slerosis. Brain 113: 291–302, 1990.

Leuzzi V Favatà I Seri S : Bilateral striatal lesions. Dev Med Child Neurol 30: 252–265, 1988.

Leuzzi V Bertini E : Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry 55: 16–19, 1992.

Lyon G Adams RD Kolodny EH : Neurology of Hereditary Metabolic diseases of Children. McGraw-Hill, New York 1996: 94–99.

Macaya A Munell F : Disorders of movement in Leigh syndrome. Neuroped 24: 60–67, 1992.

Marsden CD Lang AE : Familial dystonia and visual failure with stratal luciencies. J Neurol Neurosurg Psychiatry 49: 500–509, 1986.

Morris AAM Leonard JV : Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 40: 25–30, 1996.

Naito E Michinori I : Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive conenital lactic acidemia. Pediatr Res 36: 1–7, 1994.

Novotny EJ Singh G : Leber's disease and dystonia: A mitochondrial disease. Neurology 36: 1053–1060, 1986.

Pebenito R Ferretti C : Idiopathic torsion dystonia with lesions of the basal ganglia. Clin Pediatr 3: 232–235, 1984.

Petty RKH Harding AE Morgan-Hughes JA : The clinical features of mitochondrial myopathy. Brain 109: 915–938, 1986.

Rahman S Blok RB : Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 39: 343–351, 1996.

Robinson BH : Lactic acidemia (disorders of pyruvate carboylase, pyruvate dehydrogenase). In: Scriver R Beaudet AL (eds): The metabolic and molecular bases of inherited disease. McGraw-Hill, New York 1995: 1479–1499.

Robinson BH MacKay N : Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex. J Inher Metab Dis 19: 452–462, 1996.

Roig M Calopa M : Bilateral striatal lesions in childhood. Pediatr Neurol 9: 349–358, 1993.

Santorelli F Shanske S : The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann neurol 34: 827–834, 1993.

Santorelli F Sharke S : A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 44: 972–974, 1994.

Santorelli F Mak S-C : Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 39: 914–917, 1996.

Shoffner JM Brown MD : Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 38: 163–19, 1995.

Shoffner JM : Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 348: 1283–1288, 1996.

Takakubo F Cartwright P : An amino acid substitution in the pyruvate dehydrogenase E1α, affecting mitochondrial import of the precursor protein. Am J Hum Genet 57: 772–780, 1995.

Tatuch Y Christodoulou J : Hetero-plasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852–858, 1992.

Thyagarajan D Shanske S : A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann neurol 38: 468–472, 1995.

Uziel G Moroni I : Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six family. J Neurol Neurosurg Psychiatry 63: 16–22, 1997.

Zafeiriou DI Koletzko B : Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh synrome. Brain & Develop 17: 117–121, 1995.

Zeviani M Bertagnolio B Uziel G : Neurological presentations of mitochondrial diseases. J Inher Metab Dis 19: 504–520, 1996.