SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Nasu T, Tsukahara Y, Terayama K, Mamiya N. An autopsy case of “membranous lipodystrophy” with myeloosteopathy of long bones and leucodystrophy of the brain (in Japanese). Tokyobyourisyuudankaikiroku 1970; 1013.
  • 2
    Hakola HPA, Järvi OH, Sourander P. Osteodysplasia polycystica hereditaria combined with sclerosing leucoencephalopathy. Acta Neurol Scand Suppl 1970; 43: 7980.
  • 3
    Paloneva J, Kestila M, Wu J et al. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet 2000; 25: 357361.
  • 4
    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: 656662.
  • 5
    Nasu T, Tsukahara Y, Terayama K. A lipid metabolic disease- “membranous lipodystrophy”- an autopsy case demonstrating numerous peculiar membrane structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Path Jap 1973; 23: 539559.
  • 6
    Terayama K. Two cases of disease presented specific features with bone cyst-like lesions (in japanese). Nipponseikeigekagakkaizasshi 1961; 35: 626.
  • 7
    Nasu T. Pathology of membranous lipodystrophy (in Japanese). Nihonbyourigakkaishi 1978; 67: 5798.
  • 8
    Järvi OH, Hakola HPA, Lauttamus LL. Cystic capillary-necrotic osteodysplasia: a systemic bone disease probably caused by arteriolar and capillary necrosis. Relation to brain affections. State University of Milan; 1968 Seventh International Congress of International Academy of Pathology, Abstracts.
  • 9
    Hakola HPA. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Neuropsych Scand Suppl 1972; 232: 1173.
  • 10
    Yakumaru K, Matsuyama H, Kageyama K, Nasu T. An autopsy case of membranous lipodystrophy. The 19th Autumn Meeting of the Japanese Pathologic Society, Tokyo 1973.
  • 11
    Hanawa S, Matsushita M, Takahashi K. A case of Nasu-Hakola's disease (in Japanese with English abstract). Psychiatr Neurol Jpn 1981; 83: 2945.
  • 12
    Järvi OH, Hakola HPA, Sourander P, Kormano M, Nevalainen T, Kalimo H. Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy (PLO-SL). In: EriksonAW, ed., Population Structure and Genetic Disorders. (Proceedings of 7th Sigrid Foundation Symposium, Åland Island, Finnland, August 1978). London: Academic Press, 1980; 656664.
  • 13
    Sourander P. A new entity of phacomatosis: B. Brain lesions (Sclerosing leucoencephalopathy). Acta path microbial Scand Suppl 1970; 215: 44.
  • 14
    Adolfsson R, Forsell A, Johansson G. Hereditary polycystic osteodysplasia with progressive dementia in Sweden. Lancet 1978; 1: 12091210.
  • 15
    Wood C. Membranous lipodystrophy of bone. Arch Pathol Lab Med 1978; 102: 2227.
  • 16
    Bird TD, Koerker RM, Leaird BJ, Vlcek BW, Thorning DR. Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology 1983; 33: 8186.
  • 17
    Edvardsen P, Halvorsen TB, Nesse O. Lipomembranous osteodysplasia: a case report. Int Orthop (SICOT) 1983; 7: 99103.
  • 18
    Pazzaglia UE, Benazzo F, Castelli C, Boiocchi M, Beluffi G. Case report 381. Skeletal Radiol 1986; 15: 474477.
  • 19
    Stubgen JP, Lotz BP. Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case. S Afr Med J 1992; 81: 620622.
  • 20
    Deisenhammer F, Willeit J, Schmidauer C, Kiechl S, Pohl P. Membranous lipodystrophy (Nasu-Hakola disease) (in German with English abstract). Nervenarzt 1993; 64: 263265.
  • 21
    Kocer N, Dervisoglu S, Ersavasti G, Altug A, Cokyuksel O. Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia). Skeletal Radiol 1994; 23: 577579.
  • 22
    Verloes A, Maquet P, Sadzot B, Vivario M, Thiry A, Franck G. Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia. J Med Genet 1997; 34: 753757.
  • 23
    Machinami R. Membranous lipodystrophy of the bone (in French with English abstract). Ann Pathol 2001; 21: 524528.
  • 24
    Schafer C, Klunemann HH, Ibach B et al. Presenile dementia in polycystic lipomembranous osteodysplasia (in German with English abstract). Nervenarzt 2002; 73: 879882.
  • 25
    Fernández PM, Muñoz-Fernández S, Gil-Garay E, López-Barea F, Martín-Mola E. Membranous lipodystrophy. Case report and review of the literature. Joint Bone Spine 2003; 70: 371375.
  • 26
    Molina-Monasterios MC, Molina-Abecia H. Nasu Hakola disease: a report of the first two cases in Bolivia (in Spanish with English abstract). Rev Neurol 2003; 36: 837840.
  • 27
    Hakola HPA. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. In: HenrikssonM, HuttunenM, KuoppasalmiK, LindforsO, LönnqvistJ, eds. Monographs of Psychiatria Fennica. Monograph 17. Helsinki: Foundation for Psychiatric Research in Finland, 1990; 1114.
  • 28
    Paloneva J, Autti T, Raininko R et al. CNS manifestations of Nasu–Hakola disease: a frontal dementia with bone cysts. Neurology 2001; 56: 15521558.
  • 29
    Mizushima S, Nakazawa T. Clinical, pathological and neurochemical studies on a case of sudanophilic leukodystrophy (in Japanese). Psychiatr Neurol Jpn 1971; 73: 840853.
  • 30
    Haruta K, Matsunaga S, Ito H et al. Membranous lipodystrophy (Nasu-Hakola disease) presenting an unusually benign clinical course. Oncol Rep 2003; 10: 10071010.
  • 31
    Sato H, Mochizuki K, Ishii Y, Kawai W. A case of membranous lipodystrophy localized in bilateral carpal and tarsal bones (in Japanese). Kanto J Orthop Traumatol 1990; 21: 475479.
  • 32
    Yamamoto Y, Kawasaki Y, Takahashi K et al. A case of membranous lipodystrophy (Nasu) demonstrated by medical images (in Japanese). Jpn J Diagn Imaging 1996; 16: 8993.
  • 33
    Ueki Y, Kohara N, Oga T et al. Membranous lipodystrophy presenting with palilalia: a PET study of cerebral glucose metabolism. Acta Neurol Scand 2000; 102: 6064.
  • 34
    Takeshita T, Kaminaga T, Tatsumi T, Hatanaka Y, Furui S. Regional cerebral blood flow in a patient with Nasu-Hakola disease. Ann Nucl Med 2005; 19: 309312.
  • 35
    Fujiwara M. Histopathological and histochemical studies of membranocystic lesion (NASU) (in Japanese with English abstract). Shinshu Med J 1979; 27: 78100.
  • 36
    Fujiwara M, Suganuma T, Nasu T. Pathological studies of “membranocystic lesion” (NASU) in adipose tissue (in Japanese). Ketsugousoshiki 1980; 11: 78.
  • 37
    Harada K. A case of “membranous lipodystrophy (Nasu)” with emphasis on psychiatric and neuropathologic aspects (in German with English summary). Folia Psychiatr Neurol Jpn 1975; 29: 169177.
  • 38
    Minagawa M, Maeshiro H, Kato K, Shioda K. A rare case of leucodystrophy – neuroaxonal leucodystrophy (Seitelberger) – (in Japanese with English abstract). Psychiatr Neurol Jpn 1980; 82: 488503.
  • 39
    Tanaka J. Leukoencephalopathic alteration in membranous lipodystrophy. Acta Neuropathol (Berl) 1980; 50: 193197.
  • 40
    Koizumi T, Matsubara R, Kurachi M, Isaki K, Yamaguchi N, Nakamura Y. Sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue: a contribution to the pathology of Nasu disease. Folia Psychiatr Neurol Jpn 1982; 36: 409416.
  • 41
    Takeshima M, Hitomi H, Kimura M, Doi K, Hamaya K. An autopsy case of membranous lipodystrophy (Nasu) (in Japanese with English abstract). Brain Nerve 1984; 36: 975982.
  • 42
    Minagawa M, Maeshiro H, Shioda K, Hirano A. Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case. Clin Neuropahtol 1985; 4: 3845.
  • 43
    Imai T, Miyajima M, Toyohara K, Shimojo S, Miyahara T, Suzuki M. An autopsy case of membranous lipodystrophy of 20-years' duration (in Japanese). Rinshoshinkeigaku 1985; 25: 14581459.
  • 44
    Murayama T, Mabuchi C, Watanabe H, Wakayama H, Uno Y, Hashizume Y. An autopsy case of membranous lipodystrophy (Nasu) (in Japanese). Neuropathology 1985; 6: 196.
  • 45
    Takagi K. Membranous lipodystrophy (Nasu disease) (in Japanese). Byouritorinshou 1986; 4: 10671073.
  • 46
    Amano N, Iwabuchi K, Sakai H et al. Nasu-Hakola's disease (membranous lipodystrophy). Acta Neuropathol (Berl) 1987; 74: 294299.
  • 47
    Katsuta K, Atsumi S, Kusano I, Yatani R, Izutsu K. An autopsy case of membranous lipodystrophy (Nasu-Hakola disease) (in Japanese). Nihonbyourigakkaishi 1990; 79: 330.
  • 48
    Dohura K, Kondo A, Ogomori K, Tateishi J, Hayashi M. An autopsy case of Nasu-Hakola disease (in Japanese). Neuropathology 1990; 10: 227228.
  • 49
    Morita K, Tamura Y, Kaiya H, Nanba M, Karasawa S. An autopsy case of Nasu-Hakola disease – clinicopathological discussion of white matter impairments (in Japanese). Gifukenishikaiigakuzasshi 1991; 4: 165177.
  • 50
    Takahashi H, Kuwahara M, Fujita M, Fujioka Y, Nagashima K, Nakayama M. An autopsy case of membranous lipodystrophy (in Japanese). Hokkaidoigakuzasshi 1991; 66: 99.
  • 51
    Hara T, Takeichi M, Dohura K, Tateishi J, Hayashi M. A case of Nasu-Hakola disease-concerning the issue of autopsy findings – (in Japanese). Dementia 1991; 5: 910.
  • 52
    Miyazu K, Kobayashi K, Fukutani Y et al. Membranous lipodystrophy (Nasu-Hakola disease) with thalamic degeneration: report of an autopsied case. Acta Neuropathol 1991; 82: 414419.
  • 53
    Yokoo T, Itoh N, Fukatsu R, Takahata N, Takamaru Y. An autopsy case of membranous lipodystrophy with senile changes (in Japanese). Neuropathology 1992; 12: 142143.
  • 54
    Ibuki Y, Ogasawara S, Ishihara R et al. An autopsy case of Nasu-Hakola disease with sibling-case. Rounenseishinigakuzasshi 1995; 6: 624.
  • 55
    Inaba H, Yamaoka H, Akizuki A, Miyata K, Sano K, Hocchi M. An autopsy case of membranous lipodystrophy (in Japanese). Nihonbyourigakkaishi 1995; 84: 271.
  • 56
    Ohara N, Taguchi K, Okada M et al. An autopsy case of Nasu-Hakola disease (membranous lipodystrophy) (in Japanese with English abstract). Okayamagekabyourizasshi 1997; 34: 3135.
  • 57
    Hayashi S, Toyoshima Y, Morita M, Tanaka M, Takahashi H. An autopsy case of Nasu-Hakola disease. Neuropathology 1999; 19: A60.
  • 58
    Kobayashi K, Kobayashi E, Miyazu K et al. Hypothalamic haemorrhage and thalamus degeneration in a case of Nasu-Hakola disease with hallucinatory symptoms and central hypothermia. Neuropathol Appl Neurobiol 2000; 26: 98101.
  • 59
    Yamazaki M, Mori O, Kohno Y et al. An autopsy case of Nasu-Hakola disease. Neuropathology 2004; 24: A25.
  • 60
    Katsuse O, Togo T, Suzuki K et al. An autopsy case of Nasu-Hakola disease with 28 years duration of the illness. Neuropathology 2006; 26: A21.
  • 61
    Futamura N, Itoh K, Funakawa I, Jinnai K. An autopsied case of Nasu-Hakola disease. Neuropathology 2007; 27: 201.
  • 62
    Aoki N, Tsuchiya K, Togo T et al. Gray matter lesions in Nasu-Hakola disease: report on three autopsy cases. Neuropathology 2009; 29: 371.
  • 63
    Sasaki A, Kakita A, Hayashi S et al. Immunohistochemical study of microglia and macrophages in Nasu-Hakola disease. Neuropathology 2009; 29: 371.
  • 64
    Inoue T, Mitsuyama Y, Shirieda Y, Fujimoto T. Two autopsy cases of Nasu-Hakola disease. Neuropathology 2009; 29: 372.
  • 65
    Campbell KS, Colonna M. DAP12: a key accessory protein for relaying signals by natural killer cell receptors. Int J Biochem Cell Biol 1999; 31: 631636.
  • 66
    Kondo T, Takahashi K, Kohara N et al. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. Neurology 2002; 59: 11051107.
  • 67
    Soragna D, Papi L, Ratti MT, Sestini R, Tupler R, Montalbetti L. An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. J Neurol Neurosurg Psychiatry 2003; 74: 825826.