Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Journal of the Neurological Sciences

Volumn 314, Issue 1-2, 2012, Pages 130-137

  Sundal, Christina ^a,h   Lash, Jennifer ^a   Aasly, Jan ^b   Øygarden, Sarka ^c   Roeber, Sigrun ^d   Kretzschman, Hans ^d   Garbern, James Y ^e   Tselis, Alex ^f   Rademakers, Rosa ^g   Dickson, Dennis W ^g   Broderick, Daniel ^a   Wszolek, Zbigniew K ^a  

^a MAYO CLINIC   (United States)

^b NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^c TELEMARK HOSPITAL   (Norway)

^d UNIVERSITY OF MUNICH   (Germany)

^e UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^f WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g MAYO GRADUATE SCHOOL   (United States)

^h UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Autosomal dominant; Cognitive problems; Depression; HDLS; Parkinsonism; Personality changes; White matter disease

Indexed keywords

BETA INTERFERON; METHYLPREDNISOLONE SODIUM SUCCINATE; PREDNISOLONE;

ADULT; AGGRESSION; ALZHEIMER DISEASE; APRAXIA; ARTICLE; AUTOPSY; BIOPSY; BRADYKINESIA; CADASIL; COGNITIVE DEFECT; DEPRESSION; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DIZZINESS; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DYSPHAGIA; DYSPHASIA; DYSTONIA; FEMALE; GAIT DISORDER; GENETIC DISORDER; GRAND MAL SEIZURE; HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROID; HOMONYMOUS HEMIANOPIA; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MEDICAL RECORD REVIEW; MEMORY DISORDER; MULTIPLE SCLEROSIS; MUTISM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSONALITY DISORDER; PRIORITY JOURNAL; QUADRIPLEGIA; RIGIDITY; SOMNOLENCE; SPASTICITY; TONIC CLONIC SEIZURE; TREMOR; WHITE MATTER;

ADULT; AUTOPSY; AXONS; BIOPSY; BRAIN; COGNITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FATAL OUTCOME; FEMALE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MENTAL DISORDERS; MOVEMENT DISORDERS; NEUROIMAGING; RETROSPECTIVE STUDIES; SPHEROIDS, CELLULAR;

EID: 84857038050     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.10.006     Document Type: Article

References (36)

1. R. Axelsson, M. Roytta, P. Sourander, H.O. Akesson, and O. Andersen Hereditary diffuse leucoencephalopathy with spheroids Acta Psychiatr Scand Suppl 314 1984 1 65
2. C. Wider, J.A. Van Gerpen, S. DeArmond, E.A. Shuster, D.W. Dickson, and Z.K. Wszolek Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 72 2009 1953 1959
3. J.A. Van Gerpen, C. Wider, D.F. Broderick, D.W. Dickson, L.A. Brown, and Z.K. Wszolek Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids Neurology 71 2008 925 929
4. R.H. Swerdlow, B.B. Miller, M.B. Lopes, J.W. Mandell, G.F. Wooten, and P. Damgaard Autosomal dominant subcortical gliosis presenting as frontotemporal dementia Neurology 72 2009 260 267
5. A. Mendes, M. Pinto, S. Vieira, L. Castro, and S. Carpenter Adult-onset leukodystrophy with axonal spheroids J Neurol Sci 297 2010 40 45
6. F.J. Mateen, B.M. Keegan, K. Krecke, J.E. Parisi, M.R. Trenerry, and S.J. Pittock Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study J Neurol Neurosurg Psychiatry 81 2010 619 622
7. L. Boisse, O. Islam, J. Woulfe, S.K. Ludwin, and D.G. Brunet Neurological picture. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings J Neurol Neurosurg Psychiatry 81 2010 313 314
8. B. Mayer, C. Oelschlaeger, K. Keyvani, and T. Niederstadt Two cases of LENAS: diagnosis by MRI and biopsy J Neurol 254 2007 1453 1454
9. E. Maillart, A. Rousseau, D. Galanaud, F. Gray, M. Polivka, and P. Labauge Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids J Neurol 256 2009 1649 1654
10. Y. Baba, B. Ghetti, M.C. Baker, R.J. Uitti, M.L. Hutton, and K. Yamaguchi Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred Acta Neuropathol (Berl) 111 2006 300 311
11. W.L. Lin, Z.K. Wszolek, and D.W. Dickson Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies Int J Clin Exp Pathol 3 2010 665 674
12. B.D. Trapp, L. Bo, S. Mork, and A. Chang Pathogenesis of tissue injury in MS lesions J Neuroimmunol 98 1999 49 56
13. V. Gieselmann, and I. Krageloh-Mann Metachromatic leukodystrophy-an update Neuropediatrics 41 2010 1 6
14. N. Sakai Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment Brain Dev 31 2009 485 487
15. J. Berger, and J. Gartner X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects Biochim Biophys Acta 1763 2006 1721 1732
16. F. Eichler, W. Grodd, E. Grant, M. Sessa, A. Biffi, and A. Bley Metachromatic leukodystrophy: a scoring system for brain MR imaging observations AJNR Am J Neuroradiol 30 2009 1893 1897
17. F. Eichler, A. Mahmood, D. Loes, L. Bezman, D. Lin, and H.W. Moser Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy Arch Neurol 64 2007 659 664
18. M. Bugiani, I. Boor, J.M. Powers, G.C. Scheper, and M.S. van der Knaap Leukoencephalopathy with vanishing white matter: a review J Neuropathol Exp Neurol 69 2010 987 996
19. N. Brunetti-Pierri, and F. Scaglia GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects Mol Genet Metab 94 2008 391 396
20. M.T. Vanier Niemann-Pick disease type C Orphanet J Rare Dis 5 2010 16
21. D.P. Germain Fabry disease Orphanet J Rare Dis 5 2010 30
22. O. Neudorfer, G.M. Pastores, B.J. Zeng, J. Gianutsos, C.M. Zaroff, and E.H. Kolodny Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients Genet Med 7 2005 119 123
23. A.S. Peters, K. Markovic, A. Schramm, S. Schwab, and D. Heuss Late onset hexosaminidase A deficiency in a young adult Eur J Neurol 15 2008 e70-1 author reply e2-3
24. C. Sundal, S. Ekholm, and O. Andersen White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings Acta Neurol Scand 121 2010 328 337
25. J.M. Meythaler, J.D. Peduzzi, E. Eleftheriou, and T.A. Novack Current concepts: diffuse axonal injury-associated traumatic brain injury Arch Phys Med Rehabil 82 2001 1461 1471
26. M. Kaneko, K. Sano, J. Nakayama, and N. Amano Nasu-Hakola disease: The first case reported by Nasu and review Neuropathology 30 2010 463 470 10.1111/j.1440-1789.2010.01127.x
27. A. Melberg, L. Hallberg, H. Kalimo, and R. Raininko MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms AJNR Am J Neuroradiol 27 2006 904 911
28. J. Sundblom, A. Melberg, H. Kalimo, A. Smits, and R. Raininko MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms AJNR Am J Neuroradiol 30 2009 328 335
29. S. Tikka, K. Mykkanen, M.M. Ruchoux, R. Bergholm, M. Junna, and M. Poyhonen Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients Brain 132 2009 933 939
30. H. Seelaar, J.D. Rohrer, Y.A. Pijnenburg, N.C. Fox, and J.C. van Swieten Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review J Neurol Neurosurg Psychiatry 82 2011 476 486
31. C. Ballard, S. Gauthier, A. Corbett, C. Brayne, D. Aarsland, and E. Jones Alzheimer's disease Lancet 377 2011 1019 1031
32. K. Seppi MRI for the differential diagnosis of neurodegenerative parkinsonism in clinical practice Parkinsonism Relat Disord 13 Suppl 3 2007 S400 S405
33. C. Stadelmann Multiple sclerosis as a neurodegenerative disease: pathology, mechanisms and therapeutic implications Curr Opin Neurol 24 2011 224 229
34. A. Kohlschutter, A. Bley, K. Brockmann, J. Gartner, I. Krageloh-Mann, and A. Rolfs Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults Brain Dev 32 2010 82 89
35. J.O. Susac, F.R. Murtagh, R.A. Egan, J.R. Berger, R. Bakshi, and N. Lincoff MRI findings in Susac's syndrome Neurology 61 2003 1783 1787
36. M. van der Knaap, J. Valk, and F. Barkhof Magnetic resonance of myelination and myelin disorders 2005 Birkhäuser