Mitochondrial disorders in degenerative ataxias

European Journal of Neurology

Volumn 3, Issue 1, 1996, Pages 55-60

  Schols L ^a   Reichmann, H ^b   Amoiridis, G ^a   Seibel, P ^b   Wagener, S ^a   Seufert, S ^b   Przuntek, H ^a  

^a ST JOSEF HOSPITAL   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

ataxia; carnitine deficiency; cerebellar atrophy; mitochondriopathy; neurodegenerative diseases; respiratory chain

Indexed keywords

CARNITINE;

ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; CONTROLLED STUDY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL MYOPATHY; NERVE DEGENERATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0029915788     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.1996.tb00190.x     Document Type: Article

References (48)

1. Benecke R, Strümper P and Weiss H (1992) Electron transfer complex I defect in idiopathic dystonia. Annals of Neurology, 32, 683-686.
2. Benecke R, Strümper P and Weiss H (1993) Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-Plus syndromes. Brain, 116, 1451-1463.
3. Brennan W Jr, Bird ED and Aprille JR (1985) Regional mitochondrial respiratory activity in Huntington's disease brain. Journal of Neurochemistry, 44, 1948-1950.
4. Campos Y, Huertas R, Lorenzo G, Bautista J, Gutierrez E, Aparicio M, Alesso L and Arenas J (1993a) Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy. Muscle and Nerve, 16, 150-153.
5. Campos Y, Huertas R, Bautista J, Gutierrez E, Aparicio M, Lorenzo G, Segura D, Villanueva M, Cabello A, Alesso L and Arenas J (1993b) Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy. Muscle and Nerve, 16, 778-781.
6. Chalmers RA, Bain MD, Stacey T and de Sousa C (1990) Carnitine deficiency. Lancet, 335, 982.
7. Cortopassi GA, Shibata D, Soong NW and Arnheim N (1992) A pattern of accumulation of a somatic deletion of mitochondrial DNA in ageing human tissues. Proceedings of the National Academy of Science USA, 89, 7370-7374.
8. Dubowitz V and Brooke MH (1973) Muscle Biopsy: a Modern Approach. Philadelphia, PA, Saunders.
9. Editorial (1990) Carnitine deficiency. Lancet, 335, 631-633.
10. Fukuhara N, Tokiguchi S, Shirakawa K and Tsubaki T (1980) Myoclonus epilepsy associated with ragged red fibers (mitochondrial abnormalities): disease entity or syndrome? Journal of Neurological Science, 47, 117-133.
11. Geny C, Cormier V, Meyrignac C, Cesaro P, Degos JD, Gherardi R and Rötig A (1991) Muscle mitochondrial DNA in encephalomyopathy and ragged red fibers: a Southern blot analysis and literature review. Journal of Neurology, 238, 171-176.
12. Gerbitz KD, Obermaier-Kusser B, Zierz S, Pongratz D, Müller-Höcker J and Lestienne P (1990) Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes. Journal of Neurology, 237, 5-10.
13. Giles RE, Blanc H, Cann HM and Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proceedings of the National Academy of Science USA, 77, 6715-6719.
14. Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain, 104, 589-620.
15. Harding AE (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families including descendants of the "Drew family of Walforth". Brain, 105, 1-28.
16. Kageyama Y, Ichikawa K, Fujioka A, Tsutsumi A, Yorifuji S and Miyoshi K (1991) An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. Acta Neuropathologica, 83, 99-103.
17. Kearns TP and Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histological study in one of two cases. Archives of Ophthalmology, 60, 280-289.
18. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F and Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genetics, 6, 9-13.
19. Krige D, Caroll MT, Cooper JM, Marsden CD and Schapira AH (1992) Platelet mitochondrial function in Parkinson's disease. Annals of Neurology, 32, 782-788.
20. Lestienne P, Nelson I, Riederer P, Jellinger K and Reichmann H (1990) Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect. Journal of Neurochemistry, 55, 1810-1812.
21. Lestienne P, Nelson I, Riederer P, Reichmann H and Jellinger K (1991) Mitochondrial DNA in postmortem brain from patients with Parkinson's disease. Journal of Neurochemistry, 56, 1819.
22. Li SH, McInnis MG, Margolis RL, Antonarakis SE and Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression and length polymorphism. Genomics, 16, 572-579.
23. Linnane AW, Marzuki S, Ozawa T and Tanaka M (1989) Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases. Lancet, i, 642-645.
24. Mann VM, Cooper JM, Javoy-Agid F, Agid Y, Jenner P and Schapira AH (1990) Mitochondrial function and parenteral sex effect in Huntington's disease. Lancet, 336, 749.
25. Mann VM, Cooper JM, Krige D, Daniel SE, Schapira AH and Marsden CD (1992) Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease. Brain, 115, 333-342.
26. Mecocci P, MacGarvey U, Kaufman AE, Koontz D, Shoffner JM, Wallace DG and Beal MF (1993) Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain. Annals of Neurology, 34, 609-616.
27. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I and Yamada M (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genetics, 6, 14-18.
28. Orr HT, Chung M, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW and Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics, 4, 221-226.
29. Parker WD, Boyson SJ and Parks JK (1989) Abnormalities of electron transport chain in idiopathic Parkinson's disease. Annals of Neurology, 26, 719-726.
30. Parker WD Jr, Boyson SJ, Luder AS and Parks JK (1990) Evidence for a defect in NADH ubiquinone oxidoreductase (complex I) in Huntington's disease. Neurology, 40, 1231-1244.
31. Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC and Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Annals of Neurology, 16, 481-488.
32. Petty RK, Harding AE and Morgan-Hughes JA (1986) The clinical features of mitochondrial myopathy. Brain, 109, 915-938.
33. Plaitakis A, Nicklas WJ and Desnick RJ (1980) Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome. Annals of Neurology, 7, 297-303.
34. Reichmann H and von Lindemeiner N (1994) Carnitine analysis in normal human red blood cells, plasma and muscle tissue. European Neurology, 34, 40-43.
35. Reichmann H, Rohkamm R, Zeviani M, Servidei S, Ricker K and DiMauro S (1986) Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. Archives of Neurology, 43, 957-961.
36. Reichmann H, Riederer P and Seufert S (1990) Disturbances of the respiratory chain in brain from patients with Parkinson's disease. Movement Disorders, 5, 28.
37. Reichmann H, Flörke S, Hebenstreit G, Schrubar H and Riederer P (1993) Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease. Journal of Neurology, 240, 377-380.
38. Reichmann H, Janetzky B, Bischof F, Seibel P, Schöls L, Kuhn W and Przuntek H (1994) Unaltered respiratory chain enzyme activity and mitochondrial DNA in skeletal muscle from patients with idiopathic Parkinson's syndrome. European Neurology, 34, 263-267.
39. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB and Marsden CD (1989) Mitochondrial complex I deficiency in Parkinson's disease. Lancet, i, 1269.
40. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB and Marsden CD (1990) Mitochondrial complex I deficiency in Parkinson's disease. Journal of Neurochemistry, 54, 823-827.
41. Schöls L, Rieß O, Schöls St, Zeck S, Amoiridis G, Langkafel M, Epplen JT and Przuntek H (1996) Spinocerebellar ataxia type 1: clinical and neurophysiological characteristics in German kindreds. Acta Neurologica Scandinavia, in press.
42. Schulz JB and Beal MF (1994) Mitochondrial dysfunction in movement disorders. Current Opinion in Neurology, 7, 333-339.
43. Seibel P, Flierl A, Kottlors M and Reichmann H (1994) A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies. Biochemical and Biophysical Research Communications, 200, 938-942.
44. Shoffner JM, Watts RL, Juncos JL, Torroni A and Wallace DC (1991) Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Annals of Neurology, 30, 332-339.
45. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R and Wallace DC (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics, 17, 171-184.
46. Trounce I, Byrne E and Marzuki S (1989) Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet, i, 637-639.
47. Truong DD, Harding AE, Scaravilli F, Smith SJM, Morgan-Hughes JA and Marsden CD (1990) Movement disorders in mitochondrial myopathies: a study of nine cases with two autopsy studies. Movement Disorders, 5, 109-117.
48. Winter SC, Zorn EM and Hugh Vance W (1990) Carnitine deficiency. Lancet, 335, 981-982.