User menu

Neuropathological Findings of a Patient With Pyruvate Dehydrogenase-e1-alpha Deficiency Presenting As a Cerebral Lactic-acidosis

Bibliographic reference Michotte, A. ; Demeirleir, L. ; Lissens, W. ; Denis, R. ; Wayenberg, JL. ; et. al. Neuropathological Findings of a Patient With Pyruvate Dehydrogenase-e1-alpha Deficiency Presenting As a Cerebral Lactic-acidosis. In: Acta Neuropathologica, Vol. 85, no. 6, p. 674-678 (1993)
Permanent URL http://hdl.handle.net/2078.1/49699
  1. Blass JP (1979) Disorders of pyruvate metabolism. Neurology 29:280?286
  2. Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM (1988) ?Cerebral? lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr 147:10?14
  3. Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HHM (1989) The clinical and biochemical spectrum of pyruvate dehydrogenase deficiency. Ann NY Acad Sci 573:360?368
  4. Chow CW, Anderson RM, Kenney GCT (1987) Neuropathology in cerebral lactic acidosis. Acta Neuropathol (Berl) 74:393?396
  5. Dahl HHM, Maragos C, Brown RM, Hansen LL, Brown GK (1990) Pyruvate dehydrogenase deficiency caused by a deletion of a 7-bp repeat sequence in the E1? gene. Am J Hum Genet 47:286?293
  6. Dahl HHM, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, MacKay N, Robinson BH (1992) Mutations and polymorphisms in the pyruvate dehydrogenase E1? gene. Hum Mutat (in press)
  7. De Meirleir L, Lissens W, Vamos E, Liebaers I (1992) Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1? subunit. Hum Genet 88:649?652
  8. Duchen LW, Jacobs JM (1992) Nutritional deficiencies and metabolic disorders. In: Adams JH, Duchen LW (eds) Greenfield's neuropathology, 5th edn. Edward Arnold, London pp 847?850
  9. Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S (1989) Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1?-subunit caused by a frame shift. Am J Hum Genet 44:358?364
  10. Friede RL (1989) Dysplasias of the cerebellar cortex. In: Developmental neuropathology, 2nd edn. Springer-Verlag, New York Berlin Heidelberg Tokyo, pp 361?371
  11. Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJL, Schmidt KA, Peckman S (1987) Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics 79:370?373
  12. Peiffer J, Kustermann-Kuhn B, Mortier W, Poremba M, Roggendorf W, Scholte HR, Schröder JM, Wendtland B, Wessel K, Zimmermann C (1988) Mitochondrial nyopathies with necrotizing encephalopathy of the Leigh type. Pathol Res Pract 183:706?716
  13. Reynolds SF, Blass JP (1976) A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. Neurology 26:625?628
  14. Robinson BH, McMillan H, Petrova-Benedict R, Sherwood WG (1987) Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 111:525?533
  15. Shanske S (1992) Mitochondrial encephalopathies: defects of nuclear DNA Brain Pathol 2:159?162