Clinical aspects of neuropathic lysosomal storage disorders

Journal of Inherited Metabolic Disease

Volumn 33, Issue 4, 2010, Pages 315-329

  Jardim, Laura Bannach ^a,b   Villanueva, Maria Mercedes ^b   Souza, Carolina F Moura De ^b   Netto, Cristina B Oliveira ^b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; COHORT ANALYSIS; DISEASE CLASSIFICATION; DISEASE COURSE; EARLY DIAGNOSIS; GENETIC RISK; GENETICS; HUMAN; LONGITUDINAL STUDY; LYSOSOME STORAGE DISEASE; NEUROPATHY; OBSERVATIONAL STUDY; PATIENT COUNSELING; PREGNANCY; PROSPECTIVE STUDY; REVIEW; SCORING SYSTEM; SURVIVAL RATE; TREATMENT OUTCOME; GENETIC COUNSELING; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; PATHOPHYSIOLOGY;

GENETIC COUNSELING; HUMANS; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM;

EID: 77956057420     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9079-5     Document Type: Review

References (73)

1. S Al Sawaf E Mayatepek B Hoffmann 2008 Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed J Inherit Metab Dis 31 4 473 480 10.1007/s10545-008-0878-x 1:STN:280:DC%2BD1crhvVymtw%3D%3D 18618289
2. M Aldenhoven JJ Boelens TJ de Koning 2008 The clinical outcome of Hurler syndrome after stem cell transplantation Biol Blood Marrow Transplant 14 5 485 498 10.1016/j.bbmt.2008.01.009 1:CAS:528:DC%2BD1cXmtFSnsrc%3D 18410891
3. G Altarescu M Sun DF Moore, et al. 2002 The neurogenetics of mucolipidosis type IV Neurology 59 3 306 313 1:CAS:528:DC%2BD38XmvVartbg%3D 12182165
4. LT Arbour K Silver P Hechtman EP Treacy MB Coulter-Mackie 2000 Variable onset of metachromatic leukodystrophy in a Vietnamese family Pediatr Neurol 23 2 173 176 10.1016/S0887-8994(00)00164-8 1:STN:280:DC%2BD3M%2FjsF2rsQ%3D%3D 11020646
5. LB Augestad WD Flanders 2006 Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in Norway J Child Neurol 21 11 917 922 10.1177/08830738060210110801 17092455
6. N Baumann JC Turpin M Lefevre B Colsch 2002 Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? J Physiol Paris 96 3-4 301 306 10.1016/S0928-4257(02)00019-0 12445909
7. JJ Boelens 2006 Trends in haematopoietic cell transplantation for inborn errors of metabolism J Inherit Metab Dis 29 413 420 10.1007/s10545-005-0258-8 16763911
8. EA Braunlin NR Stauffer CH Peters JI Bass JM Berry JJ Hopwood, et al. 2003 Usefulness of bone marrow transplantation in the Hurler syndrome Am J Cardiol 92 882 886 10.1016/S0002-9149(03)00909-3 14516901
9. R Buccoliero J Bodennec AH Futerman 2002 The role of sphingolipids in neuronal development: lessons from models of sphingolipid storage diseases Neurochem Res 27 7-8 565 574 10.1023/A:1020207613196 1:CAS:528: DC%2BD38XntFGrs7g%3D 12374191
10. JT Clarke MA Skomorowski P Chang 1989 Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy Am J Med Genet 33 1 10 13 10.1002/ajmg.1320330104 1:STN:280:DyaL1MzitVCqtg%3D%3D 2568751
11. LA Clarke 2008 The mucopolysaccharidoses: a success of molecular medicine Expert Rev Mol Med 10 e1 1 18 10.1017/S1462399408000550
12. JD Cooper 2003 Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis Curr Opin Neurol 16 2 121 128 10.1097/00019052-200304000-00001 1:CAS:528:DC%2BD3sXmvFSntro%3D 12644737
13. PK Duffner VS Caviness Jr RW Erbe MC Patterson KR Schultz DA Wenger C Whitley 2009 The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York Genet Med 11 6 450 454 10.1097/GIM.0b013e3181a16e04 19346954
14. CM Eng N Guffon WR Wilcox, et al. 2001 Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease N Engl J Med 345 9 16 10.1056/NEJM200107053450102 1:CAS:528:DC%2BD3MXltlKisro%3D 11439963
15. NJ Galjart N Gillemans A Harris, et al. 1988 Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuroaminidase: homology to yeast proteases Cell 54 6 755 764 10.1016/S0092-8674(88)90999-3 1:CAS:528:DyaL1MXitVKrtbY%3D 3136930
16. J Imrie S Vijayaraghaven C Whitehouse, et al. 2002 Niemann-Pick disease type C in adults J Inherit Metab Dis 25 6 491 500 10.1023/A:1021259403196 1:CAS:528:DC%2BD38XptFejtro%3D 12555942
17. A Jalanko T Braulke 2009 Neuronal ceroid lipofuscinoses Biochim Biophys Acta 1793 4 697 709 10.1016/j.bbamcr.2008.11.004 1:CAS:528:DC%2BD1MXjslOlsbY%3D 19084560
18. M Jeyakumar RA Dwek TD Butters FM Platt 2005 Storage solutions: treating lysosomal disorders of the brain Nat Rev Neurosci 6 9 713 725 16049428
19. MM Kaback 2000 Population-based genetics screening for reproductive counseling: the Tay Sachs experience Eur J Pers 159 S192 S195 1:CAS:528:DC%2BD3MXjs1Kgug%3D%3D
20. E Kachur R Del Maestro 2000 Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation Neurosurgery 47 1 223 228 10.1097/00006123-200007000- 00046 1:STN:280:DC%2BD3M%2FnsV2nuw%3D%3D 10917366
21. G Khanna AE Van Heest J Agel, et al. 2007 Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation Bone Marrow Transplant 39 331 334 10.1038/sj.bmt.1705586 1:CAS:528:DC%2BD2sXisVKrt7c%3D 17277793
22. WJ Kleijer GC Geilen HC Janse OP Van Diggelen XY Zhou H Galjart A D́Azzo 1996 Cathepsin A deficiency in galactosialidosis: studies of patients in 16 families Pediatr Res 39 6 1067 1071 10.1203/00006450-199606000- 00022 1:STN:280:DyaK28zmsVSrtg%3D%3D 8725271
23. Kohlschütter A, Schulz A (2009) Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev Feb 3
24. Kornfeld S, Sly WS (2001) I-cell disease an pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosporylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3469-3482
25. W Krivit P Aubourg E Shapiro C Peters 1999 Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome Curr Opin Hematol 6 6 377 382 10.1097/00062752-199911000-00004 1:STN:280:DC%2BD3c%2Fht1arsw%3D%3D 10546790
26. M Kurihara K Kumagai K Goto M Imai S Yagishita 1992 Severe type Hunter's syndrome. Polysomnographic and neuropathological study Neuropediatrics 23 5 248 256 10.1055/s-2008-1071352 1:STN:280:DyaK3s%2Fos1Onsw%3D%3D 1454144
27. SC Lai RS Chen YH Wu Chou, et al. 2009 A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome Eur J Neurol 16 8 912 919 10.1111/j.1468-1331.2009.02622.x 19473359
28. Leroy JG (2007) Oligosaccharidoses, disorders allied to the oligosaccharides; Ch 108. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds) Emery and Rimoin's principles and practice of medical genetics, 5th edn. Churchill Livingstone Elsevier, Philadelphia, pp 2413-2448
29. ZY Lim AY Ho S Abrahams, et al. 2008 Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease Bone Marrow Transplant 41 9 831 832 10.1038/sj.bmt.1705984 1:STN:280:DC%2BD1czhtleqsg%3D%3D 18246117
30. Lyon G, Kolodny EH, Pastores G (2006) Neurology of hereditary metabolic disease of children, 3rd edn. McGraw-Hill, New York
31. MM McGovern A Aron SE Brodie RJ Desnick MP Wasserstein 2006 Natural history of type a Niemann-Pick disease possible endpoints for therapeutic trials Neurology 66 2 228 232 10.1212/01.wnl.0000194208.08904.0c 1:STN:280: DC%2BD28%2Fks1elug%3D%3D 16434659
32. JC Michalski A Klein 1999 Glycoprotein lysosomal storage disorders: alpha-and beta-mannosidosis, fucosidosis and alpha-N-acetylgalacto-saminidase deficiency Biochim Biophys Acta 1455 2-3 69 84 1:CAS:528:DyaK1MXntlOhuro%3D 10571005
33. A Meyer K Kossow A Gal, et al. 2007 Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) Pediatrics 120 5 e1255 e1261 10.1542/peds.2007-0282 17938166
34. AM Montaño S Tomatsu GS Gottesman M Smith T Orii 2007 International Morquio a registry: clinical manifestation and natural course of morquio a disease J Inherit Metab Dis 30 2 165 174 10.1007/s10545-007-0529-7 17347914
35. DF Moore CR Kaneski H Askari R Schiffmann 2007 The cerebral vasculopathy of Fabry disease J Neurol Sci 257 1-2 258 263 10.1016/j.jns.2007.01.053 17362993
36. J Muenzer JE Wraith M Beck, et al. 2006 A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) Genet Med 8 465 473 10.1097/01.gim.0000232477.37660.fb 1:CAS:528:DC%2BD28XotFWqs7c%3D 16912578
37. MV Munoz-Rojas T Vieira R Costa, et al. 2008 Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression Am J Med Genet 146A 19 2538 2544 10.1002/ajmg.a.32294 18792977
38. Munoz-Rojas MV, Horovitz D, Jardim LB et al. (2010) Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 99(4):346-350
39. Neufeld EF, Muenzer J (2001) The mucopoysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421-3452
40. FD Nidiffer TE Kelly 1983 Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study J Ment Defic Res 27 Pt 3 185 203 6415286
41. Patterson MC, Vanier MT, Suzuki K et al (2001) Niemann-pick disease type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGrawHill, New York, pp 3611-3634
42. C Peters EG Shapiro J Anderson, et al. 1998 Hurler syndrome: II. outcome of HLA-genotypically identical sibling and HLA haploidentical related donor bone marrow transplantation in fifty-four children The Storage Disease Collaborative Study Group Blood 91 2601 2608 1:CAS:528:DyaK1cXitF2hsbc%3D
43. C Peters CG Steward National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group 2003 Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines Bone Marrow Transplant 31 4 229 239 10.1038/sj.bmt.1703839 1:STN:280:DC%2BD3s7gslygtg%3D%3D 12621457
44. TM Pierson CG Bonnemann RS Finkel N Bunin GI Tennekoon 2008 Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy Ann Neurol 64 5 583 587 10.1002/ana.21522 19067349
45. SM Pradhan LO Atchaneeyasakul B Appukuttan, et al. 2002 Electronegative electroretinogram in mucolipidosis IV Arch Ophthalmol 120 1 45 50 11786056
46. H Rauschka B Colsch N Baumann, et al. 2006 Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype Neurology 67 5 859 863 10.1212/01.wnl.0000234129.97727.4d 1:STN:280:DC%2BD28rktF2lsA%3D%3D 16966551
47. AJJ Reuser MR Drost 2006 Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles Acta Pediatrica Suppl 95 451 77 78 10.1080/08035320600618957
48. GJ Ruijter MJ Valstar JM Van de Kamp, et al. 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands Mol Genet Metab 93 2 104 111 10.1016/j.ymgme.2007.09.011 1:CAS:528:DC%2BD1cXit1Sgsrw%3D 18024218
49. P Santavuori L Lauronen E Kirveskari L Åberg K Sainio T Autti 2000 Neuronal ceroid lipofuscinoses in childhood Neurol Sci 21 3 Suppl S35 S41 1:STN:280:DC%2BD3crhsVaktg%3D%3D 11073226
50. RP Santos JJ Hoo 2009 Difficulty in recognizing multiple sulfatase deficiency in an infant Pediatrics 117 3 955 958 10.1542/peds.2005-1032
51. Scarpa et al., present issue
52. Schiffman et al., present issue
53. R Schiffmann JB Kopp HA Austin III, et al. 2001 Enzyme replacement therapy in Fabry disease: a randomized controlled trial JAMA 285 2743 2749 10.1001/jama.285.21.2743 1:STN:280:DC%2BD3MzltVCgsg%3D%3D 11386930
54. R Schiffmann EJ Fitz Gibbon CM Harris, et al. 2008 Randomized, controlled trial of miglustat in Gaucher's disease type 3 Ann Neurol 64 5 514 522 10.1002/ana.21491 19067373
55. M Sevin G Lesca N Baumann G Millat O Lyon-Caen MT Vanier F Sedel 2007 The adult form of niemann-pick disease type C Brain 130 Pt 1 120 133 17003072
56. BE Shapiro GM Pastores J Gianutsos C Luzy EH Kolodny 2009 Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment Genet Med 11 6 425 433 10.1097/GIM. 0b013e3181a1b5c5 1:CAS:528:DC%2BD1MXntF2gsrY%3D 19346952
57. G Souillet N Guffon I Maire, et al. 2003 Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources Bone Marrow Transplant 31 12 1105 1117 10.1038/sj.bmt.1704105 1:STN:280:DC%2BD3s3mvFKqtw%3D%3D 12796790
58. SL Staba ML Escolar M Poe, et al. 2004 Cord-blood transplants from unrelated donors in patients with Hurler's syndrome N Engl J Med 350 19 1960 1969 10.1056/NEJMoa032613 1:CAS:528:DC%2BD2cXjslehs7c%3D 15128896
59. R Steinfeld P Heim GH Von, et al. 2002 Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations Am J Med Genet 112 4 347 354 10.1002/ajmg.10660 12376936
60. Thomas GH (2001) Disordes of glycoprotein degradation: a-Mannosidosis, b-Mannosidosis, Fucosidosis and Sialidosis. In: Scriver CR, Beaudet AC, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. 8th edn. McGraw-Hill, New York, pp 3507-3533
61. JJ Van de Kamp MF Niermeijer K Von Figura MA Giesberts 1981 Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) Clin Genet 20 2 152 160 6796310
62. SL Vanhanen R Raininko T Autti P Santavuori 1995 MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients J Child Neurol 10 6 444 450 10.1177/088307389501000604 1:STN:280:DyaK287lsFKktg%3D%3D 8576553
63. Von Figura K, Gieselmann V, Jacken J (2001) Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill Book Co, New York, pp 3695-3724
64. VI Vougioukas A Berlis MV Kopp R Korinthenberg J Spreer V van Velthoven 2001 Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature Pediatr Neurosurg 35 1 35 38 10.1159/000050383 1:STN:280:DC%2BD3MvksVahuw%3D%3D 11490189
65. SU Walkley M Zervas DA Siegel K Dobrenis 1999 Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons Dev Neuropsychol 16 3 361 364 10.1207/S15326942DN1603-16
66. SU Walkley 2003 Neurobiology and cellular pathogenesis of glycolipid storage diseases Philos Trans R Soc Lond B Biol Sci 358 1433 893 904 10.1098/rstb.2003.1276 1:CAS:528:DC%2BD3sXlsFeqsr8%3D 12803923
67. SU Walkley 2009 Pathogenic cascades in lysosomal disease-why so complex? J Inherit Metab Dis 32 2 181 189 10.1007/s10545-008-1040-5 1:CAS:528: DC%2BD1MXjvFOgsLk%3D 19130290
68. NJ Weinreb J Charrow HC Andersson, et al. 2002 Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry Am J Med 113 112 119 10.1016/S0002-9343(02)01150-6 1:CAS:528:DC%2BD38XlsVKru74%3D 12133749
69. Wenger DA, Suzuki K, Suzuki Y, Suzuki K (2001) Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3669-3693
70. S Worgall MV Kekatpure L Heier, et al. 2007 Neurological deterioration in late infantile neuronal ceroid lipofuscinosis Neurology 69 6 521 535 10.1212/01.wnl.0000267885.47092.40 1:STN:280:DC%2BD2svmt1Snsg%3D%3D 17679671
71. EJ Wraith JJ Hopwood M Fuller PJ Meikle DA Brooks 2005 Laronidase treatment of mucopolysaccharidosis I BioDrugs 19 1 7 10.2165/00063030-200519010- 00001 1:CAS:528:DC%2BD2MXjtleltLw%3D 15691212
72. JE Wraith 2002 Lysosomal disorders Semin Neonatol 7 1 75 83 10.1053/siny.2001.0088 1:STN:280:DC%2BD38zislOksg%3D%3D 12069540
73. Yanjanin NM, Vélez JI, Gropman A et al. (2009) Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet May 4