Magnetic resonance findings in leucodystrophies and MS

International MS Journal

Volumn 16, Issue 2, 2009, Pages 47-56

  Labauge, Pierre ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

Leucodystrophies; Magnetic resonance; Multiple sclerosis

Indexed keywords

COLLAGEN TYPE 4; DARS2 PROTEIN; GADOLINIUM; GENE PRODUCT; GLIAL FIBRILLARY ACIDIC PROTEIN; IMMUNOGLOBULIN G; INITIATION FACTOR; LAMININ; LAMININ B1; N ACETYLASPARTIC ACID; NOTCH3 RECEPTOR; PROTEIN ELF2B ALPHA; PROTEIN ELF2B BETA; PROTEIN ELF2B EPSILON; PROTEIN ELF2B GAMMA; PROTEIN ELF2B LAMBDA; TREX 1 PROTEIN; UNCLASSIFIED DRUG;

ACUTE DISSEMINATED ENCEPHALOMYELITIS; ADULT ONSET AUTOSOMAL DOMINANT LEUCODYSTROPHY; ALEXANDER DISEASE; ATAXIA; CADASIL; CENTRAL NERVOUS SYSTEM HYPOMYELINATION; CHROMOSOME 1; CHROMOSOME 19; CHROMOSOME 19Q; CHROMOSOME 5Q; DEMYELINATING DISEASE; DISEASE CLASSIFICATION; FRONTAL VARIANT FRONTOTEMPORAL DEMENTIA; GENE DUPLICATION; GENE MUTATION; GENETICS; HISTOPATHOLOGY; HUMAN; LEUCOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND HIGH LACTATE; LEUCOENCEPHALOPATHY WITH VANISHING WHITE MATTER SYNDROME; LEUKODYSTROPHY; MEGALENCEPHALIC LEUCOENCEPHALOPATHY; MULTIPLE SCLEROSIS; MYELOOPTIC NEUROPATHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOGENESIS; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUCOENCEPHALOPATHY; RETINA VASCULITIS; REVIEW; RISK FACTOR; SYMPTOMATOLOGY; VASCULAR DISEASE; BRAIN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

BRAIN; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MULTIPLE SCLEROSIS;

EID: 70349760162     PISSN: 13528963     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (69)

1. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al. Clinical spectrum of CADASIL: A study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995; 346: 934-939.
2. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383: 707-710.
3. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A et al. Patterns of MRI lesions in CADASIL. Neurology 1998; 51: 452-457.
4. Chabriat H, Mrissa R, Levy C, Vahedi K, Taillia H, Iba-Zizen MT et al. Brain stem MRI signal abnormalities in CADASIL. Stroke 1999; 30: 457-459.
5. O'Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001; 56: 628-634.
6. Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutières F et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003; 60: 57-63.
7. van der Knaap MS, Smit L, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol 2006; 59: 504-511.
8. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Alcardi J et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007; 81: 713-725.
9. van der Knaap MS, Barth PG, Stroink H, Nieuwenhuizen O, Arts WFM, Hoogenraad F et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-334.
10. Singhal BS, Gursahani RD, Udani VP, Biniwale AA. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 1996; 14: 291-296.
11. Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998; 20: 142-153.
12. Koeda T, Takeshita K. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. Brain Dev 1998; 20: 245-249.
13. Boespflug-Tanguy O, Bertini E, Stefano A et al. Subcortical cysts and genetic heterogeneity of megalencephalic leukoencephalopathy. Neurology 2003; 61: 534-537.
14. Gorospe JR, Singhal BS, Kainu T, Wu F, Stephan D, Trent J et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004; 62: 878-882.
15. Topcu M, Gartioux C, Ribierre F, Yalcinkaya C, Tokus E, Oztekin N et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000; 66: 733-739.
16. Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-838.
17. Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N et al. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Hum Genet 2002; 111: 214-218.
18. Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N et al. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 2003; 61: 534-537.
19. Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC et al. Megalencephalic leukoencephalopathy with subcortical cysts: an updated and extended mutation analysis of MLC1. Hum Mutat 2006; 27: 505-512.
20. van der Knaap MS, van der Voorn P, Barkhof F, Van Caster R, Krägeloh-Mann I, Feigenbaum A et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53: 252-258.
21. Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T et al. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology 2004; 63: 688-692.
22. Serkov SV, Pronin IN, Bykova OV, Maslova OI, Arutyunov NV, Muravina TI et al. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 2004; 35: 1-5.
23. Petzold GC, Bohner G, Klingebiel R, Amberger N, van der Knaap MS, Zschenderlein R. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 2006; 77: 889-891.
24. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007: 39: 534-539.
25. Labauge P, Roullet E, Boespflug-Tanguy O, Nicoli F, Le Fur Y, Cozzone PJ et al. Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression. Eur Neurol 2007; 58: 59-61.
26. Verloes A, Maquet P, Sadzot B, Vivario M, Thiry A, Franck G. Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. J Med Genet 1997; 34: 753-757.
27. Klünemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW et al. The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2. Neurology 2005; 64: 1502-1507.
28. Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M et al. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 2001; 56: 1552-1558.
29. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 2002; 71: 656-662.
30. Kondo T, Takahashi K, Kohara N, Takahashi Y, Hayashi S, Takahashi H et al. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. Neurology 2002; 59: 1105-1107.
31. Soragna D, Papi L, Ratti MT, Sestini R, Tupler R, Montalbetti L. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. J Neurol Neurosurg Psychiatry 2003; 74: 825-826.
32. Bouchon A, Dietrich J, Colonna M. Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. J Immunol 2000; 164: 4991-4995.
33. Eldridge R, Anayiotos CP, Schlesinger S, Cowen D, Bever C, Patronas N et al. Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 1984; 311: 948-953.
34. Schwankhaus JD, Katz DA, Eldridge R, Schlesinger S, McFarland H. Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch Neurol 1994; 51: 757-766.
35. Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J et al. Genetic localisation of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 2000; 9: 787-793.
36. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 2006; 38: 1114-1123.
37. Li R, Johnson A, Salomons G, Goldman JE, Naidu S, Quinlan R et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005; 57: 310-326.
38. Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003; 60: 1307-1312.
39. Okamoto Y, Mitsuyama H, Jonosono M, Hirata K, Arimura K, Osame N et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002; 195: 71-76.
40. Thyagarajan D, Chataway T, Li R, Gai WP, Brenner M. Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. Mov Disord 2004; 19: 1244-1248.
41. Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S et al. Infantile Alexander disease: spectrum of GFAP mutations and genotypephenotype correlation. Am J Hum Genet 2001; 69: 1134-1140.
42. Huttner HB, Richter G, Hildebrandt M, Blümcke I, Fritscher T, Brück W et al. Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. Eur J Neurol 2007; 14: 1251-1255.
43. van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S et al. Alexander disease: diagnosis with MR imaging. Am J Neuroradiol 2001; 22: 541-552.
44. Salvi F, Aoki Y, Della Nave R, Vella A, Pastorelli F, Scaglione C et al. Adult Alexander's disease without Leukoencephalopathy. Ann Neurol 2005; 58: 813-814.
45. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001; 27: 117-120.
46. Namekawa M, Takiyama Y, Aoki Y, et al. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002; 52: 779-785.
47. Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR et al. The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. Am J Hum Genet 2006; 79: 197-213.
48. van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48: 845-855.
49. van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003; 73: 1199-1207.
50. Fogli A, Dionisi-Vici C, F. Deodato F, Bertuli A, Boespflug-Tanguy O, Bestini E. A severe variant of CACH / VWM leukoencephalopathy related to EIF2B5 mutation. Neurology 2002; 59: 1966-1968.
51. Fogli A, Boespflug-Tanguy O. The large spectrum of eIF2B related diseases. Biochem Soc Trans 2006; 34: 22-29.
52. Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002; 52: 506-510.
53. Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, van der Knaap MS et al. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003; 61: 1818-1819.
54. Ohtake H, Shimohata T, Terajima K, Kimura T, Jo R, Kaseda R et al. Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. Neurology 2004; 62: 1601-1603.
55. Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour E, Labauge P, Meaney BF et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003; 72: 1544-1550.
56. Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994; 35: 331-340.
57. Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR et al. Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol 1997; 41: 654-661.
58. Mascalchi M, De Grandis D, Ginestroni A, Pratesi A, Della Nave R, Scheper GC et al. Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy. Neurology 2006; 67: 537-538.
59. van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002; 51: 264-270.
60. van der Knaap MS, Leegwater PA, van Berkel, Brenner C, Storey E, Di Rocco M et al. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 2004; 62: 1598-1600.
61. Leegwater PA, Könst AA, Kuyt B, Sandkuijl LA, Naidu S, Oudejans CB et al. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am J Hum Genet 1999; 65: 728-734.
62. Leegwater PA, Vermeulen G, Könst AA,Naidu S, Mulders J, Visser A et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001; 29: 383-388.
63. Lukes SA, Crooks LE, Aminoff MJ, Kaufman L, Panitch HS, Mills C et al. Nuclear magnetic resonance in imaging in multiple sclerosis. Ann Neurol 1983; 13: 592-601.
64. Barkhof F, Filippi M, Miller DH, Scheltens P, Campi A, Polman CH et al. Comparison of MR imaging criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain 1997; 120: 2059-2069.
65. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin HD et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-127.
66. Polman CH, Reingold SC, Edan G, Filippi M, Hartung HP, Kappos L et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria". Ann Neurol 2005; 58: 840-846.
67. Simon JH, Li D, Traboulsee A, Coyle PK, Arnold DL, Barkhof F et al. Standardized MR imaging protocol for multiple sclerosis: Consortium of MS Centers consensus guidelines. Am J Neuroradiol 2006; 27: 455-461.
68. Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol 2007; 6: 805-815.
69. Menge T, Hemmer B, Nessler S, Wiendl H, Neuhaus O, Hartung HP et al. Acute disseminated encephalomyelitis: an update. Arch Neurol 2005; 62: 1673-1680.