Metabolic neuropathies and myopathies

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1437-1455

  D'amico, Adele ^a   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876879440     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00013-7     Document Type: Chapter

References (109)

1. Amati-Bonneau P., Milea D., Bonneau D., et al. OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009, 41:1855-1865.
2. Andersen S.T., Vissing J. Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry 2008, 79:1359-1363.
3. Andersen S.T., Haller R.G., Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 2008, 65:786-789.
4. Andresen B.S., Olpin S., Poorthuis B.J., et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 1999, 64:479-494.
5. Andreu A.L., Hanna M.G., Reichmann H., et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999, 341:1037-1044.
6. Arenas J., Campos Y., Bornstein B., et al. A double mutation (A8296G and G8353A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 1999, 52:377-382.
7. Bembi B., Cerini E., Danesino C., et al. Diagnosis of glycogenosis type II. Neurology 2008, 71:S4-S11.
8. Bembi B., Cerini E., Danesino C., et al. Management and treatment of glycogenosis type II. Neurology 2008, 71:S12-S36.
9. Berenberg R.A., Pellock J.M., DiMauro S., et al. Lumping or splitting? " Ophthalmoplegia-plus" or Kearns-Sayre syndrome?. Ann Neurol 1997, 11:37-54.
10. Bindu P.S., Mahadevan A., Taly A.B., et al. Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India. J Neurol Neurosurg Psychiatry 2005, 76:1698-1701.
11. Bonne G., Benelli C., De Meirleir L., et al. E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. Pediatr Res 1990, 33:284-288.
12. Bouillot S., Martin-Negrier M.L., Vital A., et al. Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. J Peripher Nerv Syst 2002, 7:213-220.
13. Boxer R.A., Fishman M., LaCorte M.A., et al. Cardiac MR imaging in Pompe disease. J Comput Assist Tomogr 1986, 10:857-859.
14. Braverman N., Chen L., Lin P., et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat 2002, 20:284-297.
15. Bruno C., DiMauro S. Lipid storage myopathies. Curr Opin Neurol 2008, 21:601-606.
16. Bruno C., Bado M., Minetti C., et al. Forearm semi-ischemic exercise test in pediatric patients. J Child Neurol 1998, 13:288-290.
17. Byrne E., Dennett X., Trounce I., et al. Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. J Neurol Sci 1985, 71:273-281.
18. Calabresi P., Silvestri G., DiMauro S., et al. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MEERF. Muscle Nerve 1994, 17:943-945.
19. Campuzano V., Montermini L., Molto M.D., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
20. Carelli V., La Morgia C., Valentino M.L., et al. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Act 1998, 1787:518-528.
21. Casari G., De Fusco M., Ciarmatori S., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998, 93:973-983.
22. Chabrol B., Mancini J., Benelli C., et al. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. J Child Neurol 1994, 9:52-55.
23. Chérin P., Rose C., de Roux-Serratrice C., et al. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). J Inherit Metab Dis 2010, 33:331-338.
24. Ciafaloni E., Ricci E., Servidei S., et al. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991, 41:1663-1665.
25. Coker S. Leigh disease presenting as Guillain-Barré syndrome. Pediatr Neurol 1993, 9:61-63.
26. Crane F.L., Sun I.L., Sun E.E. The essential functions of coenzyme Q. Clin Investig 1993, 71:S55-S59.
27. Del Bo R., Moggio M., Rango M., et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. Neurology 2008, 71:1959-1966.
28. Delettre C., Lenaers G., Griffoin J.M., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000, 26:207-210.
29. Deschauer M., Wieser T., Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol 2005, 62:37-41.
30. DiMauro S., Bonilla E., Hays A.P. Skeletal muscle storage diseases: myopathies resulting from errors in carbohydrate and fatty acid metabolism. Skeletal Muscle Pathology 1992, Churchill Livingstone, Edinburgh. F.L. Mastalgia, J.N. Walton (Eds.).
31. Dlamini N., Jan W., Norwood F., et al. Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease). Neuromuscul Disord 2008, 18:408-409.
32. Elpeleg O., Miller C., Hershkowitz E., et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005, 76:1081-1086.
33. Ferdinandusse S., Denis S., Clayton P.T., et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 2000, 24:188-191.
34. Ferdinandusse S., Kostopoulos P., Denis S., et al. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy (sic) with dystonia and motor neuropathy. Am J Hum Genet 2006, 78:1046-1052.
35. Fernández-Ayala D.J., López-Lluch G., García-Valdés M., et al. Specificity of coenzyme Q10 for a balanced function of respiratory chain and endogenous ubiquinone biosynthesis in human cells. Biochim Biophys Acta 2005, 1706:174-183.
36. Fischer J., Lefevre C., Morava E., et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007, 39:28-30.
37. Gempel K., Topaloglu H., Talim B., et al. A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene. J Biol Chem 2001, 276:25589-25597.
38. Gempel K., Topaloglu H., Talim B., et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007 Aug, 130(Pt 8):2037-2044.
39. Hagemans M.L., Winkel L.P., Van Doorn P.A., et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005, 128:671-677.
40. Hagemans M.L., Winkel L.P., Hop W.C., et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005, 64:2139-2141.
41. Haller R.G., Vissing J. Spontaneous " second wind" and glucose-induced second " second wind" in McArdle disease: oxidative mechanisms. Arch Neurol 2002, 59:1395-1402.
42. Haller R.G., Wyrick P., Taivassalo T., et al. Aerobic conditioning: an effective therapy in McArdle's disease. Ann Neurol 2006, 59:922-928.
43. Hirano M., Nishino I., Nishigaki Y., et al. Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Intern Med 2006, 45:1103.
44. Hirano M., Angelini C., Montagna P.H. Amyotrophic lateral sclerosis with ragged-red fibers. Arch Neurol 2008, 65:403-406.
45. Horvath R., Schneiderat P., Schoser B.G.H. Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006, 66:253-255.
46. Huang C.C., Chu C.C., Pang C.Y., et al. Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. Acta Neurol Scand 1999, 99:125-129.
47. Ibdah J.A., Tein I., Dionisi-Vici C., et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 1998, 102:1193-1199.
48. IJlst L., Ruiter J.P.N., Hoovers J.M.N. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 1996, 98:1028-1033.
49. Jansen G.A., Ofman R., Ferdinandusse S. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 1997, 17:190-193.
50. Jansen G.A., Waterham H.R., Wanders R.J.A. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 2004, 23:209-218.
51. Jastrzebski M. Short PR interval in Pompe disease. J Intern Med 2009, 266:571-572. author reply 573.
52. Kale G., Tokatli A., Quinzii C., et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007, 130:2037-2044.
53. Kärppä M., Syrjälä P., Tolonen U., et al. Peripheral neuropathy in patients with the 3243 A>G mutation in mitochondrial DNA. J Neurol 2003, 250:216-221.
54. Katirji B., Kesner V., Hejal R.B., et al. Axial muscle atrophy in adult-onset Pompe disease. Neurology 2008, 70:e36.
55. Keren Z., Falik-Zaccai T.C. Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Pediatr Endocrinol Rev 2009, 7:6-11.
56. Kishnani P.S., Corzo D., Nicolino M., et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68:99-109.
57. Klinge L., Straub V., Neudorf U., et al. Enzyme replacement therapy in classical infantile Pompe disease: results of a ten-month follow-up study. Neuropediatrics 2005, 36:6-11.
58. Klinge L., Straub V., Neudorf U., et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005, 15:24-31.
59. Korn-Lubetzki I., Dor-Wollman T., Soffer D., et al. Early peripheral nervous system manifestations of infantile Krabbe disease. Pediatr Neurol 2003, 28:115-118.
60. Landrieu P., Saïd G. Peripheral neuropathy in type A Niemann-Pick disease A morphological study. Acta Neuropathol (Berl) 1984, 63:66-71.
61. Lass A., Zimmermann R., Haemmerle G., et al. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 2004, 306:1383-1386.
62. Malicdan M.C., Noguchi S., Nonaka I., et al. Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord 2008, 18:521-529.
63. Mandel H., Szargel R., Labay V., et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001, 29:337-341.
64. Masters C. Lipidic signaling and peroxisomal function. Subcell Biochem 1998, 30:437-452. Review.
65. Michot C., Hubert L., Brivet M., et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat 2010, 31:E1564-E1573.
66. Milone M., Brunetti-Pierri N., Tang L.Y., et al. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 2008, 18:626-632.
67. Montero R., Sánchez-Alcázar J.A., Briones P., et al. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Clin Biochem 2009, 42:742-745.
68. Moraes C.T., Shanske S., Tritschler H.J., et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991, 48:492-501.
69. Moser H.W. Genotype-phenotype correlations in disorders of peroxisome biogenesis. Mol Genet Metab 1999, 68:316-327.
70. Moser H.W., Raymond G.V. Genetic peroxisomal disorder: why, when, and how to test. Am Neurol Assoc 1998, 44:713-715.
71. Nagashima T., Kato H., Maguchi S., et al. A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Neuromuscul Disord 2001, 11:470-476.
72. Nardin R.A., Johns D.R. Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 2001, 24:170-191.
73. Naumann M., Kiefer R., Toyka K.V., et al. Mitochondrial dysfunction with myoclonus epilepsy and ragged red fibers point mutation in nerve, muscle and adipose tissue of a patient with multiple symmetric lipomatosis. Muscle Nerve 1997, 20:833-839.
74. Ogasahara S., Engel A.G., Frens D., et al. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 1989, 86:2379-2382.
75. Olsen R.K.J., Andresen B.S., Christensen E., et al. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003, 22:12-23.
76. Ømgreen M.C., Ejstrup R., Vissing J. Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency. Neurology 2003, 61:559-561.
77. Peña-Penabad C., Almagro M., Martínez W., et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001, 144:430-432.
78. Pezeshkpour G., Krarup C., Buchthal F., et al. Peripheral neuropathy in mitochondrial disease. J Neurol Sci 1987, 77:285-304.
79. Poulos A., Sharp P., Whiting M. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?. Clin Genet 1984, 26:579-586.
80. Quinlivan R., Beynon R.J., Martinuzzi A. Pharmacological and nutritional treatment for McArdle disease (glycogen storage disease type V). Cochrane Database Syst Rev 2008, CD003458.
81. Quinzii C.M., Hirano M., DiMauro S. CoQ10 deficiency diseases in adults. Mitochondrion 2007, 7:S122-S126.
82. Ramachandran N., Munteanu I., Wang P., et al. VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell 2009, 137:235-246.
83. Roe C.R., Ding J. Mitochondrial fatty acid disorders. The Metabolic and Molecular Bases of Inherited Disease 2001, 2297-2326. McGraw-Hill, New York. 8th edn. C.R. Scriver, A.L. Beaudet, W.S. Sly (Eds.).
84. Rusanen H., Majamaa K., Tolonen U., et al. Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA. Neurology 1995, 45:1188-1192.
85. Saada A., Shaag A., Mandel H., et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001, 29:342-344.
86. Santoro L., Carrozzo R., Malandrini A., et al. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscul Disord 2000, 10:450-453.
87. Schiffmann R. Fabry disease. Pharmacol Ther 2009, 122:65-77.
88. Schröder J., Sommer C. Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and a review of the literature. Acta Neuropathol (Berl) 1991, 82:471-482.
89. Siddiqi Z.A., Sanders D.B., Massey J.M. Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. Neurology 2006, 67:263-267.
90. Sobreira C., Hirano M., Shanske S., et al. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology 1997, 48:1238-1243.
91. Spiekerkoetter U., Sun B., Khuchua Z., et al. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 2003, 21:598-607.
92. Spiekerkoetter U., Bennett M.J., Ben-Zeev B., et al. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 2004, 29:66-72.
93. Spinazzola A., Viscomi C., Fernandez-Vizarra E., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006, 38:570-575.
94. Stickler D.E., Carney P.R., Valenstein E.R. Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation. J Child Neurol 2003, 18:574-576.
95. Stickler D.E., Valenstein E., Neiberger R.E., et al. Peripheral neuropathy in genetic mitochondrial diseases. Pediatr Neurol 2006, 34:127-131.
96. Tein I., De Vivo D.C., Bierman F., et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990, 28:247-255.
97. Tein I., Elpeleg O., Ben-Zeev B., et al. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C-T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab 2008, 93:179-189.
98. Titorenko V.I., Mullen R.T. Peroxisome biogenesis: the peroxisomal endomembrane system and the role of the ER. J Cell Biol 2006, 174:11-17.
99. Tyni T., Palotie A., Viinikka L., et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997, 130:67-76.
100. Van Goethem G., Dermaut B., Lofgren A., et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001, 28:211-212.
101. Wanders R.J.A., Boltshauser E., Steinmann B., et al. Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. J Neurol Sci 1990, 98:1-11.
102. Wanders R.J., Tager J.M. Lipid metabolism in peroxisomes in relation to human disease. Mol Aspects Med 1998, 19:69-154.
103. Wanders R.J., Waterham H.R. Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 2006, 1763:1707-1720.
104. Williams M.L., Koch T.K., O'Donnell J.J., et al. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1985, 20:711-726.
105. Winchester B., Bali D., Bodamer O.A. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2008, 93:275-281. Pompe Disease Diagnostic Working Group.
106. Winkel L.P., Van den Hout J.M., Kamphoven J.H., et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 2004, 55:495-502.
107. Zafeiriou D.I., Triantafyllou P., Gombakis N.P., et al. Niemann-Pick type C disease associated with peripheral neuropathy. Pediatr Neurol 2003, 29:242-244.
108. Zimmermann R., Strauss J.G., Haemmerle G., et al. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 2004, 306:1383-1386.
109. Zuchner S., Mersiyanova I.V., Muglia M., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004, 36:449-451.