Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

Journal of Neurology

Volumn 258, Issue 12, 2011, Pages 2240-2247

  Stromillo, Maria Laura ^a,b   Malandrini, Alessandro ^a   Dotti, Maria Teresa ^a   Battaglini, Marco ^a   Borgogni, Federico ^a   Tessa, Alessandra ^b   Storti, Eugenia ^b   Denora, Paola S ^c   Santorelli, Filippo Maria ^a   Gaudiano, Carmen ^a   Battisti, Carla ^a   Federico, Antonio ^a   Stefano, Nicola D E ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Axonal damage; Brain atrophy; Magnetic resonance; Spastic paraplegia with thin corpus callosum; Spectroscopy; SPG11

Indexed keywords

BRAIN PROTEIN; CHOLINE; CREATINE; N ACETYLASPARTIC ACID; SPG11 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN DAMAGE; BRAIN LEVEL; BRAIN METABOLISM; BRAIN SIZE; CASE CONTROL STUDY; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GENE MUTATION; GRAY MATTER; HETEROZYGOTE; HUMAN; MALE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT MOBILITY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; QUANTITATIVE ANALYSIS; SPASTIC PARAPLEGIA; STRUCTURE ANALYSIS; WALKING; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; FEMALE; HUMANS; IMAGE INTERPRETATION, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 83255194180     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6106-x     Document Type: Article

References (34)

1. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 211(8334):1151-1155 (Pubitemid 13084682)
2. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39:366-372 (Pubitemid 46328495)
3. Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A (2008) SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 70:1384-1389 (Pubitemid 351521929)
4. Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A, SPATAX consortium (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131:772- 784 (Pubitemid 351294708)
5. Xu V, Chan H, Lin AP, Sailasuta N, Valencerina S, Tran T, Hovener J, Ross BD (2008) MR spectroscopy in diagnosis and neurological decision-making. Semin Neurol 28:407-422
6. Pagani E, Bizzi A, Di Salle F, De Stefano N, Filippi M (2008) Basic concepts of advanced MRI techniques. Neurol Sci 29(Suppl 3):290-295
7. Giacomini PS, Arnold DL (2008) Non-conventional MRI techniques for measuring neuroprotection, repair and plasticity in multiple sclerosis. Curr Opin Neurol 21:272-277 (Pubitemid 351653975)
8. Cockrell JR, Folstein MF (1988) Mini-Mental State Examination (MMSE) Psychopharmacol. Bull 24:689-692 (Pubitemid 19054375)
9. Schüle R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schö ls L (2006) The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430-434
10. De Stefano N, Narayanan S, Francis GS, Arnaoutelis R, Tartaglia MC, Antel JP, Matthews PM, Arnold DL (2001) Evidence of axonal damage in the early stages of multiple sclerosis and its relevance to disability. Arch Neurol 58:65-70 (Pubitemid 32053209)
11. Smith SM, Zhang Y, Jenkinson M, Chen J, Matthews PM, Federico A, De Stefano N (2002) Accurate, robust, and automated longitudinal and cross-sectional brain change analysis. Neuroimage 17:479-489
12. Battaglini M, Smith SM, Brogi S, De Stefano N (2008) Enhanced brain extraction improves the accuracy of brain atrophy estimation. Neuroimage 40:583-589
13. De Stefano N, Matthews PM, Filippi M, Agosta F, De Luca M, Bartolozzi ML, Guidi L, Ghezzi A, Montanari E, Cifelli A, Federico A, Smith SM (2003) Evidence of early cortical atrophy in MS: relevance to white matter changes and disability. Neurology 60:1157-1162 (Pubitemid 36418778)
14. De Stefano N, Matthews PM, Antel JP, Preul M, Francis G, Arnold DL (1995) Chemical pathology of acute demyelinating lesions and its correlation with disability. Ann Neurol 38:901- 909 (Pubitemid 26004072)
15. Tedeschi G, Schiffmann R, Barton NW, Shih HH, Gospe SM Jr, Brady RO, Alger JR, Di Chiro G (1995) Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology 45:1526- 1532
16. Barker PB, Soher BJ, Blanckband SJ, Chaltham JC, Matthews VP, Bryan RN (1993) Quantitation of proton NMR spectra of the human brain using tissue water as an internal concentration reference. NMR Biomed 6:89-94
17. Barantin L, Le Pape A, Akoka S (1997) A new method for absolute quantitation of MRS metabolites. Magn Reson Med 38:179-182 (Pubitemid 27328242)
18. Malucelli E, Manners DN, Testa C, Tonon C, Lodi R, Barbiroli B, Iotti S (2009) Pittfalls and advantages of different strategies for the absolute quantification of N-acetyl aspartate, creatine and choline in white and grey matter by 1H-MRS. NMR Biomed 22:1003-1013
19. Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, SicklE, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM (2009) Screening of ARHSP- TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat 30:E500-E519
20. Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 61:117-121 (Pubitemid 38067422)
21. Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz B, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 62:656-665
22. Dreha-Kulaczewsk S, Dechent P, Helms G, Frahm J, Gärtner J, Brockmann K (2006) Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology 48:893-898 (Pubitemid 44830805)
23. França MC Jr, D'Abreu A, Maurer-Morelli CV, Seccolin R, Appenzeller S, Alessio A, Damasceno BP, Nucci A, Cendes F, Lopes-Cendes I (2007) Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord 22:1556-1557
24. Kassubek J, Sperfeld AD, Baumgartner A, Huppertz H-J, Riecker A, Juengling FD (2006) Brain atrophy in pure and complicate hereditary spastic paraparesis: a quantitative 3D MRI study. Eur J Neurol 13:880-886 (Pubitemid 44124686)
25. Chen Q, Lui S, Wang JG, Ou-Young L, Zhou D, Burgunder JM, Gong QY, Shang HF (2008) Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum. Neurosci Lett 441:21-24
26. Chan D, Fox NC, Jenkins R, Schahill RI, Crum WR, Rossor MN (2001) Rates of global and regional cerebral atrophy in AD and frontotemporal dementia. Neurology 57:1756-1763 (Pubitemid 33096679)
27. O'Brien JT, Paling S, Barber R, Williams ED, Ballard C, Mckeith IG, Gholkar A, Crum WR, Rossor MN, Fox NC (2001) Progressive brain atrophy on serial MRI in dementia with Lewy bodies, AD and vascular dementia. Neurology 56:1386-1388 (Pubitemid 32455303)
28. Enzinger C, Ropele S, Smith S, Strasser-Fuchs S, Poltrum B, Schmidt H, Matthews PM, Fazekas F (2004) Accelerated evolution of brain atrophy and ''black holes'' in MS patients with APOE-epsilon 4. Ann Neurol 55:563-569 (Pubitemid 38391974)
29. Guerrera S, Stromillo ML, Mignarri A, Battaglini M, Marino S, Di Perri C, Federico A, De Stefano N (2010) Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry 81:1189-1193
30. Simmons ML, Frondoza CG, Coyle JT (1991) Immunocytochemical localization of N- acetyl- aspartate with monoclonal antibodies. Neuroscience 45:37-45
31. Bjartmar C, Battistuta J, Terada N, Dupree E, Trapp BD (2002) N-acetylaspartate is an axon- specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol 51:51-58 (Pubitemid 34027977)
32. Deluca GC, Ebers GC, Esiri MM (2004) The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 30:576-584 (Pubitemid 39564177)
33. Hanefeld FA, Brockmann K, Pouwels PJ, Wilken B, Frahm J, Dechent P (2005) Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 65:701-706 (Pubitemid 41285848)
34. Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009) Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 132:1577-1588