Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes

Histopathology

Volumn 68, Issue 2, 2016, Pages 308-312

  Fernández Vega, Ivan ^a   Pérez de Heredia Goñi, Katti ^a   Santos Juanes, Jorge ^b   Goñi Imizcoz, Miguel ^c   Zaldumbide, Laura ^d   Zarranz, Juan Jose ^d   Ferrer, Isidro ^e  

^a HOSPITAL TXAGORRITXU   (Spain)

^b HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^c Hospital Divino Valles   (Spain)

^d HOSPITAL DE CRUCES   (Spain)

^e HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

TREM2; Adult onset leucodystrophy; CSFF1R; DAP12; Hereditary diffuse leucoencephalopathy with axonal spheroids; Pigmented orthochromatic leucodystrophy neuroaxonal spheroids

Indexed keywords

COLONY STIMULATING FACTOR 1 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; KILLER CELL ACTIVATING RECEPTOR ASSOCIATED PROTEIN; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; UNCLASSIFIED DRUG; IMMUNOGLOBULIN RECEPTOR; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TREM2 PROTEIN, HUMAN; TYROBP PROTEIN, HUMAN;

ADULT; ADULT ONSET ORTHOCHROMATIC LEUCODYSTROPHY; AGITATION; ARTICLE; ATAXIA; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DYSTONIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEUKODYSTROPHY; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPASTICITY; SPHEROID CELL; STEREOTACTIC BIOPSY; AXON; GENETIC SCREENING; GENETICS; METACHROMATIC LEUKODYSTROPHY; MUTATION; ONSET AGE; PATHOLOGY; PHYSIOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; AXONS; FEMALE; GENETIC TESTING; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEUROGLIA; RECEPTORS, IMMUNOLOGIC;

EID: 84955180030     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/his.12741     Document Type: Article

References (42)

1. Martin L, Martin JJ. Ludo van Bogaert (1897-1989). Acta Neurol. Belg. 1996; 96; 254-263.
2. Gray F, Destee A, Bourre JM et al. Pigmentary type of orthochromatic leukodystrophy (old): a new case with ultrastructural and biochemical study. J. Neuropathol. Exp. Neurol. 1987; 46; 585-596.
3. Tunon T, Ferrer I, Gallego J, Delgado G, Villanueva JA, Martinez-Penuela JM. Leucodystrophy with pigmented glial and scavenger cells (pigmentary type of orthochromatic leucodystrophy). Neuropathol. Appl. Neurobiol. 1988; 14; 337-344.
4. Constantinidis J, Wisniewski TM. The dominant form of the pigmentary orthochromatic leukodystrophy. Acta Neuropathol. 1991; 82; 483-487.
5. Shannon P, Wherrett JR, Nag S. A rare form of adult onset leukodystrophy: orthochromatic leukodystrophy with pigmented glia. Can. J. Neurol. Sci. 1997; 24; 146-150.
6. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr. Scand. Suppl. 1984; 314; 1-65.
7. Baba Y, Ghetti B, Baker MC et al. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol. 2006; 111; 300-311.
8. 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.
9. Riku Y, Ando T, Goto Y et al. Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids. J. Neuropathol. Exp. Neurol. 2014; 73; 1183-1190.
10. Hoffmann S, Murrell J, Harms L et al. Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Brain Pathol. 2014; 24; 452-458.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. Freeman SH, Hyman BT, Sims KB et al. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009; 19; 39-47.
17. Rademakers R, Baker M, Nicholson AM et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat. Genet. 2012; 44; 200-205.
18. Guerreiro R, Kara E, Le Ber I et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the csf1r gene. JAMA Neurol. 2013; 70; 875-882.
19. Ahmed R, Guerreiro R, Rohrer JD et al. A novel a781v mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. J. Neurol. Sci. 2013; 332; 141-144.
20. Karle KN, Biskup S, Schule R et al. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 2013; 81; 2039-2044.
21. Konno T, Tada M, Koyama A et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014; 82; 139-148.
22. Lynch DS, Jaunmuktane Z, Sheerin UM et al. Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J. Neurol. Neurosurg. Psychiatry 2015; doi: 10.1136/jnnp-2015-310788. [Epub ahead of print].
23. Nicholson AM, Baker MC, Finch NA et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013; 80; 1033-1040.
24. Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J. Neurol. 2013; 260; 558-571.
25. Kim EJ, Shin JH, Lee JH et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: report of four Korean cases. J. Neurol. Sci. 2015; 349; 232-238.
26. Martinez-Saez E, Shah S, Costa C, Fleminger S, Connor S, Bodi I. Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions. Neuropathology 2012; 32; 285-292.
27. Alturkustani M, Keith J, Hazrati LN, Rademakers R, Ang LC. Pathologic staging of white matter lesions in adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids. J. Neuropathol. Exp. Neurol. 2015; 74; 233-240.
28. Sundal C, Lash J, Aasly J et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J. Neurol. Sci. 2012; 314; 130-137.
29. Wider C, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids: more than just a rare disease. Neurology 2014; 82; 102-103.
30. 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.
31. Levin J, Tiedt S, Arzberger T et al. Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation. Clin. Neurol. Neurosurg. 2014; 122; 113-115.
32. Mitsui J, Matsukawa T, Ishiura H et al. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012; 159B; 951-957.
33. Guerreiro RJ, Lohmann E, Bras JM et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013; 70; 78-84.
34. Alturkustani M, Sharma M, Hammond R, Ang LC. Adult-onset leukodystrophy: review of 3 clinicopathologic phenotypes and a proposed classification. J. Neuropathol. Exp. Neurol. 2013; 72; 1090-1103.
35. Paloneva J, Manninen T, Christman G 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.
36. Numasawa Y, Yamaura C, Ishihara S et al. Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. Eur. J. Neurol. 2011; 18; 1179-1183.
37. Chouery E, Delague V, Bergougnoux A, Koussa S, Serre JL, Megarbane A. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum. Mutat. 2008; 29; E194-E204.
38. Le BI, De SA, Guerreiro R et al. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. Neurobiol. Aging 2014; 35; 2419.e23-2419.e2419.25.
39. La Piana R, Webber A, Guiot MC, Del Pilar Cortes M, Brais B. A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. Neurogenetics 2014; 15; 289-294.
40. Kimura T, Ishizawa K, Mitsufuji T et al. A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases. Neuropathol. Appl. Neurobiol. 2013; 39; 837-843.
41. Fujioka S, Broderick DF, Sundal C, Baker MC, Rademakers R, Wszolek ZK. An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders. J. Neurol. 2013; 260; 2665-2668.
42. Chitu V, Gokhan S, Gulinello M et al. Phenotypic characterization of a CSF1R haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP). Neurobiol. Dis. 2015; 74; 219-228.