Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions

Neuropathology

Volumn 32, Issue 3, 2012, Pages 285-292

  Martinez Saez, Elena ^a,c   Shah, Sachit ^a   Costa, Carme ^b   Fleminger, Simon ^d   Connor, Stephen ^a   Bodi, Istvan ^a  

^a KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d SOUTH LONDON AND MAUDSLEY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Adult onset leukodystrophy; Leukoencephalopathy; Multiple sclerosis; Neuroaxonal spheroids; White matter disease

Indexed keywords

AMYLOID PRECURSOR PROTEIN; ANTIBIOTIC AGENT; NEUROFILAMENT PROTEIN; PARACETAMOL;

ADULT; ADULT ONSET LEUKODYSTROPHY WITH NEUROAXONAL SPHEROID; AFRICA; ANTIBIOTIC THERAPY; ARTICLE; AUTOPSY; BEHAVIOR CHANGE; BRAIN; BRAIN CALCIFICATION; BRAIN DAMAGE; BRAIN DYSFUNCTION; BRAIN STEM; CASE REPORT; CERVICAL SPINAL CORD; CHEST INFECTION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; DEMYELINATING DISEASE; DISEASE ASSOCIATION; FEMALE; FRONTAL LOBE; FRONTAL LOBE DYSFUNCTION; HEADACHE; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; LEUKODYSTROPHY; MICROSCOPY; MINI MENTAL STATE EXAMINATION; NEUROAXONAL DYSTROPHY; NEUROFILAMENT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PARIETAL LOBE; PATHOPHYSIOLOGY; PERSONALITY DISORDER; PRIORITY JOURNAL; SICKLE CELL TRAIT; URINALYSIS; WHITE MATTER; WHITE MATTER LESION;

ADULT; AMYLOID BETA-PROTEIN PRECURSOR; ATROPHY; BRAIN; BRAIN DISEASES; BRAIN STEM; DEMENTIA; DEMYELINATING DISEASES; ELECTROENCEPHALOGRAPHY; FATAL OUTCOME; FEMALE; FRONTAL LOBE; HUMANS; IMMUNOHISTOCHEMISTRY; NEUROFILAMENT PROTEINS; NEUROPSYCHOLOGICAL TESTS; PARIETAL LOBE; PERSONALITY; SPHEROIDS, CELLULAR; SPINAL CORD; TEMPORAL LOBE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84861531309     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2011.01257.x     Document Type: Article

References (36)

1. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 1984; 314: 1-65.
2. Freeman SH, Hyman BT, Sims KB etal. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol 2009; 19: 39-47.
3. van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 2000; 54: 463-468.
4. Nasu TTY, Terayama K, Mamiya N. An autopsy case of "membranous lipodystrophy" with myeloosteopathy of long bones and leucodystrophy of the brain. The 59th Tokyo Meeting of Pathology Tokyo Byori Shudankai Kiji 1970: 10-13.
5. Hakola HP, Järvi OH, Sourander P. Osteodysplasia polycystica hereditaria combined with sclerosing leucoencephalopathy, a new entity of the dementia praesenilis group. Acta Neurol Scand Suppl 1970; 43: 78-79.
6. Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wszolek ZK. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 2009; 72: 1953-1959.
7. Alafuzoff I, Pikkarainen M, Al-Sarraj S etal. Interlaboratory comparison of assessments of Alzheimer disease-related lesions: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol 2006; 65: 740-757.
8. Terada S, Ishizu H, Yokota O etal. An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. Acta Neuropathol 2004; 108: 538-545.
9. Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology 2008; 71: 925-929.
10. Baba Y, Ghetti B, Baker MC etal. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 2006; 111: 300-311.
11. Boisse L, Islam O, Woulfe J, Ludwin SK, Brunet DG. Neurological picture. Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: novel imaging findings. J Neurol Neurosurg Psychiatry 2010; 81: 313-314.
12. Hancock N, Poon M, Taylor B, McLean C. Hereditary diffuse leucoencephalopathy with spheroids. J Neurol Neurosurg Psychiatry 2003; 74: 1345-1347.
13. Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S. Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics. Acta Neuropathol 2006; 111: 39-45.
14. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 2004; 107: 481-488.
15. Mendes A, Pinto M, Vieira S, Castro L, Carpenter S. Adult-onset leukodystrophy with axonal spheroids. J Neurol Sci 2010; 297: 40-45.
16. Yazawa I, Nakano I, Yamada H, Oda M. Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids. J Neurol Sci 1997; 147: 185-191.
17. Goodman LA, Dickson DW. Nonhereditary diffuse leukoencephalopathy with spheroids presenting as early-onset, rapidly-progressive dementia. J Neuropathol Exp Neurol 1995; 54: 471.
18. Moro-de-Casillas ML, Cohen ML, Riley DE. Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy. J Neurol Neurosurg Psychiatry 2004; 75: 1070-1072.
19. Yamashita M, Yamamoto T. Neuroaxonal leukoencephalopathy with axonal spheroids. Eur Neurol 2002; 48: 20-25.
20. Browne L, Sweeney BJ, Farrell MA. Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid. Eur Neurol 2003; 50: 85-90.
21. Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS. Neurology 2008; 70: 1128-1133.
22. Levin N, Soffer D, Biran I etal. Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia. Isr Med Assoc J 2008; 10: 386-387.
23. Maillart E, Rousseau A, Galanaud D etal. Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids. J Neurol 2009; 256: 1649-1654.
24. Mascalchi M, Gavazzi C, Morbin M etal. CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia. Am J Neuroradiol 2006; 27: 1037-1039.
25. Mateen FJ, Keegan BM, Krecke K, Parisi JE, Trenerry MR, Pittock SJ. Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 2010; 81: 619-622.
26. Tievsky AL, Ptak T, Farkas J. Investigation of apparent diffusion coefficient and diffusion tensor anisotrophy in acute and chronic multiple sclerosis lesions. Am J Neuroradiol 1999; 20: 1491-1499.
27. Narayana PA. Magnetic resonance spectroscopy in the monitoring of multiple sclerosis. J Neuroimaging 2005; 15: 46S-57S.
28. Rosso C, Remy P, Creange A, Brugieres P, Cesaro P, Hosseini H. Diffusion-weighted MR imaging characteristics of an acute strokelike form of multiple sclerosis. Am J Neuroradiol 2006; 27: 1006-1008.
29. Alkan O, Kizilkilic E, Kizilkilic O etal. Cranial involvement in sickle cell disease. Eur J Radiol 2010; 76: 151-156.
30. Steen RG, Langston JW, Ogg RJ, Xiong X, Ye Z, Wang WC. Diffuse T1 reduction in gray matter of sickle cell disease patients: evidence of selective vulnerability to damage? Magn Reson Imaging 1999; 17: 503-515.
31. Aoki N, Tsuchiya K, Togo T etal. Gray matter lesions in Nasu-Hakola disease: a report on three autopsy cases. Neuropathology 2010; 31: 135-143.
32. Ali ZS, Van Der Voorn JP, Powers JM. A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia - a role for oxidative damage. J Neuropathol Exp Neurol 2007; 66: 660-672.
33. Houshmand M, Sanati MH, Babrzadeh F etal. Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients. Mult Scler 2005; 11: 728-730.
34. Venkateswaran S, Zheng K, Sacchetti M etal. Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination. Neurology 2011; 76: 774-780.
35. Lin WL, Wszolek ZK, Dickson DW. Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. Int J Clin Exp Pathol 2010; 3: 665-674.
36. Paloneva J, Manninen T, Christman G etal. 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.