Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: Clinical and neuropathological characteristics

Acta Neuropathologica

Volumn 111, Issue 1, 2006, Pages 39-45

  Itoh, Kyoko ^a   Shiga, Kensuke ^a   Shimizu, Kentaro ^b   Muranishi, Manabu ^a   Nakagawa, Masanori ^a   Fushiki, Shinji ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^b Nishi Kyoto Hospital   (Japan)

Author keywords

Autosomal dominant leukodystrophy; Fronto temporal dementia; Neuroaxonal spheroids; Pigmentary orthochromatic leukodystrophy

Indexed keywords

MYELIN; OIL SCARLET;

ADULT; APHASIA; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BRAIN SIZE; CASE REPORT; CELL LOSS; CLINICAL FEATURE; COGNITIVE DEFECT; CORPUS CALLOSUM; DEATH; FRONTAL LOBE; GLIA; GLIA CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEUKODYSTROPHY; MACROPHAGE; MALE; MICROSCOPY; MOTOR DYSFUNCTION; NERVE FIBER; NEUROPATHOLOGY; ONSET AGE; PIGMENTATION; PRIORITY JOURNAL; SIBLING; SYMPTOMATOLOGY; TEMPORAL LOBE; TUMOR SPHEROID; WHITE MATTER;

AXONS; DEMENTIA; FRONTAL LOBE; GENES, DOMINANT; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MYELIN SHEATH; NEUROGLIA; PEDIGREE; SPHEROIDS, CELLULAR; STAINING AND LABELING; TEMPORAL LOBE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; UBIQUITIN;

EID: 29544451186     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-1113-6     Document Type: Article

References (17)

1. Axelsson R, Roytta M, Sourander P, Akesson HO, Andersen O (1984) Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 314:1-65 6595937
2. Constantinidis J, Wisniewski TM (1991) The dominant form of the pigmentary orthochromatic leukodystrophy. Acta Neuropathol 82:483-487 10.1007/BF00293382
3. Knopman D, Sung JH, Davis D (1996) Progressive familial leukodystrophy of late onset. Neurology 46:429-434 8614507
4. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH (2004) Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 107:481-488 10.1007/s00401-004-0847-x
5. Okeda R, Matsuo T, Kawahara Y, Eishi Y, Tamai Y, Tanaka M, Kamaki M, Tsubota N, Yamadera H (1989) Adult pigment type (Peiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings. Acta Neuropathol 78:533-542 10.1007/ BF00687716
6. Peiffer J (1970) The pure leucodystrophic forms of orthochromatic leucodystrophies (simple type, pigment type). Handb Clin Neurol 10:105-119
7. Pietrini V, Tagliavini F, Pilleri G, Trabattoni CR, Lechi A (1979) Orthochromatic leukodystrophy with pigmented glial cells. An adult case with clinical-anatomical study. Acta Neurol Scand 59:140-147 88156
8. Seiser A, Jellinger K, Brainin M (1990) Pigmentary type of orthochromatic leukodystrophy with early onset and protracted course. Neuropediatrics 21:48-52 2314558
9. Shannon P, Wherrett JR, Nag S (1997) A rare form of adult onset leukodystrophy: Orthochromatic leukodystrophy with pigmented glia. Can J Neurol Sci 24:146-150 9164693
10. Sotrel A (1988) On the dual nature and lack of specificity of intracytoplasmic inclusions in a case of adult onset orthochromatic leukodystrophy. J Neuropathol Exp Neurol 47:490-492 3385441
11. Terada S, Ishizu H, Yokota O, Ishihara T, Nakashima H, Kugo A, Tanaka Y, Nakashima T, Nakashima Y, Kuroda S (2004) An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer's disease. Acta Neuropathol 108:538-545 10.1007/ s00401-004-0920-5
12. Tunon T, Ferrer I, Gallego J, Delgado G, Villanueva JA, Martinez-Penuela JM (1988) Leucodystrophy with pigmented glial and scavenger cells (pigmentary type of orthochromatic leucodystrophy). Neuropathol Appl Neurobiol 14:337-344 3221979
13. Van Bogaert L, Nyssen R (1936) Le type tardif de la leukodystrophie progressive familiale. Rev Neurol (Paris) 65:21-45
14. van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC (2000) Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 54:463-468 10668715
15. Verghese J, Weidenheim K, Malik S, Rapin I (2002) Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis. Eur J Neurol 9:663-670 10.1046/j.1468-1331.2002.00469.x
16. Yamashita M, Yamamoto T (2002) Neuroaxonal leukoencephalopathy with axonal spheroids. Eur Neurol 48:20-25 10.1159/000064952
17. Yazawa I, Nakano I, Yamada H, Oda M (1997) Long tract degeneration in familial sudanophilic leukodystrophy with prominent spheroids. J Neurol Sci 147:185-191 10.1016/S0022-510X(96)05346-4