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J Med Genet. 1997 September; 34(9): 753–757.
PMCID: PMC1051061

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.

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Selected References

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  • 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 Pathol Jpn. 1973 Aug;23(3):539–558. [PubMed]
  • Yagishita S, Ito Y, Ikezaki R. Lipomembranous polycystic osteodysplasia. Virchows Arch A Pathol Anat Histol. 1976 Dec 27;372(3):245–251. [PubMed]
  • Harada K. Ein Fall von "Membranöser Lipodystrophie (Nasu)", unter besonderer Berücksichtigung des psychiatrischen und neuropathologischen Befundes. Folia Psychiatr Neurol Jpn. 1975;29(2):169–177. [PubMed]
  • Akai M, Tateishi A, Cheng CH, Morii K, Abe M, Ohno T, Ben M. Membranous lipodystrophy: a clinicopathological study of six cases. J Bone Joint Surg Am. 1977 Sep;59(6):802–809. [PubMed]
  • Tanaka J. Leukoencephalopathic alteration in membranous lipodystrophy. Acta Neuropathol. 1980;50(3):193–197. [PubMed]
  • Koizumi T, Matsubara R, Kurachi M, Isaki K, Yamaguchi N, Nakanuma Y. Sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue: a contribution to the pathology of Nasu disease. Folia Psychiatr Neurol Jpn. 1982;36(4):409–416. [PubMed]
  • Matsuo T, Suetsugu M, Eguchi M, Sasaki M, Tsuneyoshi M. Membranous lipodystrophy. A case report. Arch Psychiatr Nervenkr. 1982;231(2):123–130. [PubMed]
  • Toshima M, Kitazawa M, Ishikawa H, Kaneko H, Kusano T. An ultrastructural study of the morphogenesis of membranocystic lesions in bone marrow. Acta Pathol Jpn. 1983 Sep;33(5):1051–1059. [PubMed]
  • Minagawa M, Maeshiro H, Shioda K, Hirano A. Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case. Clin Neuropathol. 1985 Jan-Feb;4(1):38–45. [PubMed]
  • Sageshima M, Masuda H, Kawamura K, Shozawa T. Membranous lipodystrophy. Light and electron microscopic study of a biopsy case. Acta Pathol Jpn. 1987 Feb;37(2):281–290. [PubMed]
  • Amano N, Iwabuchi K, Sakai H, Yagishita S, Itoh Y, Iseki E, Yokoi S, Arai N, Kinoshita J. Nasu-Hakola's disease (membranous lipodystrophy). Acta Neuropathol. 1987;74(3):294–299. [PubMed]
  • Kitajima I, Suganuma T, Murata F, Nagamatsu K. Ultrastructural demonstration of Maclura pomifera agglutinin binding sites in the membranocystic lesions of membranous lipodystrophy (Nasu-Hakola disease). Virchows Arch A Pathol Anat Histopathol. 1988;413(6):475–483. [PubMed]
  • Hishikawa R, Fukase M, Yoshimoto Y, Imai Y, Okada S, Fujita T. A case of membranous lipodystrophy complicated by Fanconi's syndrome. Bone Miner. 1988 Oct;5(1):99–105. [PubMed]
  • Kitajima I, Kuriyama M, Usuki F, Izumo S, Osame M, Suganuma T, Murata F, Nagamatsu K. Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. J Neurol Sci. 1989 Jun;91(1-2):35–52. [PubMed]
  • Miyazu K, Kobayashi K, Fukutani Y, Nakamura I, Hasegawa H, Yamaguchi N, Saitoh T. Membranous lipodystrophy (Nasu-Hakola disease) with thalamic degeneration: report of an autopsied case. Acta Neuropathol. 1991;82(5):414–419. [PubMed]
  • Mii Y, Miyauchi Y, Yoshikawa T, Honoki K, Aoki M, Tsutsumi M, Maruyama H, Funauchi M, Konishi Y, Tamai S. Ultrastructural lipid and glycoconjugate cytochemistry of membranous lipodystrophy (Nasu-Hakola disease). Virchows Arch A Pathol Anat Histopathol. 1991;419(2):137–142. [PubMed]
  • Kondo A. Case for the panel. Unusual intracytoplasmic electron-dense material in Nasu-Hakola disease. Ultrastruct Pathol. 1991 Jan-Feb;15(1):99–104. [PubMed]
  • Araki T, Ohba H, Monzawa S, Sakuyama K, Hachiya J, Seki T, Takahashi Y, Yamaguchi M. Membranous lipodystrophy: MR imaging appearance of the brain. Radiology. 1991 Sep;180(3):793–797. [PubMed]
  • Ishigooka M, Hashimoto T, Izumiya K, Kodama C, Nakada T. Membranous lipodystrophy (Nasu's disease): a rare cause of neuropathic urinary incontinence. Urol Int. 1993;50(3):179–181. [PubMed]
  • Oishi M, Mori N, Takasu T, Osaka S, Yamamoto M, Uchiyama T, Sawada S. Nasu-Hakola disease. A case accompanied by abnormalities in fatty acid composition of serum total lipids and amino acid analysis. Acta Neurol (Napoli) 1993 Feb;15(1):53–61. [PubMed]
  • Motohashi N, Shinohara M, Shioe K, Fukuzawa H, Akiyama Y, Kariya T. A case of membranous lipodystrophy (Nasu-Hakola disease) with unique MRI findings. Neuroradiology. 1995 Oct;37(7):549–550. [PubMed]
  • Adolfsson R, Forsell A, Johansson G. Hereditary polycystic osteodysplasia with progressive dementia in Sweden. Lancet. 1978 Jun 3;1(8075):1209–1210. [PubMed]
  • Edvardsen P, Halvorsen TB, Nesse O. Lipomembranous osteodysplasia: a case report. Int Orthop. 1983;7(2):99–103. [PubMed]
  • 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 Jan;33(1):81–86. [PubMed]
  • Deisenhammer F, Willeit J, Schmidauer C, Kiechl S, Pohl P. Membranöse Lipodystrophie (Morbus Nasu-Hakola). Nervenarzt. 1993 Apr;64(4):263–265. [PubMed]
  • Preziuso L, Muncibì F, Aglietti FG. A case of membranous lipodystrophy with skeletal involvement. Chir Organi Mov. 1992 Apr-Jun;77(2):205–211. [PubMed]
  • Pazzaglia UE, Benazzo F, Castelli C, Boiocchi M, Beluffi G. Case report 381: Membranous lipodystrophy (MLD). Skeletal Radiol. 1986;15(6):474–477. [PubMed]
  • Wood C. Membranous lipodystrophy of bone. Arch Pathol Lab Med. 1978 Jan;102(1):22–27. [PubMed]
  • Stübgen JP, Lotz BP. Membranous lipodystrophy. Clinical and electrophysiological observations in the first South African case. S Afr Med J. 1992 Jun 20;81(12):620–622. [PubMed]
  • Koçer N, Dervisoglu S, Ersavasti G, Altug A, Cokyüksel O. Case report 867. Membranous lipodystrophy (polycystic lipomembranous osteodysplasia). Skeletal Radiol. 1994 Oct;23(7):577–579. [PubMed]
  • Hakola HP, Puranen M. Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Neurol Scand. 1993 Nov;88(5):370–375. [PubMed]
  • Hakola HP. Psychosocial reactions in the spouses of patients suffering polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. J Clin Psychiatry. 1990 Jan;51(1):21–24. [PubMed]
  • Hakola HP, Partanen VS. Neurophysiological findings in the hereditary presenile dementia characterised by polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy. J Neurol Neurosurg Psychiatry. 1983 Jun;46(6):515–520. [PMC free article] [PubMed]
  • Kitajima I, Kuriyama M, Usuki F, Izumo S, Osame M, Suganuma T, Murata F, Nagamatsu K. Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. J Neurol Sci. 1989 Jun;91(1-2):35–52. [PubMed]
  • Iannaccone S, Ferini-Strambi L, Nemni R, Marchettini P, Corbo M, Pinto P, Smirne S. Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report. Clin Neuropathol. 1992 Jan-Feb;11(1):49–53. [PubMed]
  • Hakola HP, Teräsvirta ME, Jägerroos PH. Ocular findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Ophthalmol (Copenh) 1989 Feb;67(1):97–100. [PubMed]
  • Hakola HP, Karjalainen P. Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia. Acta Radiol Diagn (Stockh) 1975 Jul;16(4):385–392. [PubMed]
  • Hakola HP, Iivanainen M. A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases. Neuroradiology. 1973 Nov 28;6(3):162–168. [PubMed]
  • Iivanainen M, Hakola P, Erkinjuntti T, Sipponen JT, Ketonen L, Sulkava R, Sepponen RE. Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. J Comput Assist Tomogr. 1984 Oct;8(5):940–943. [PubMed]
  • Machinami R. Degenerative change of adipose tissue; the so-called membranous lipodystrophy. Virchows Arch A Pathol Anat Histopathol. 1990;416(5):373–374. [PubMed]
  • Hanawa S, Matsushita M, Takahashi K. [A case of Nasu-Hakola's disease (author's transl)]. Seishin Shinkeigaku Zasshi. 1981 Jan;83(1):29–45. [PubMed]
  • Matsushita M, Oyanagi S, Hanawa S, Shiraki H, Kosaka K. Nasu-Hakola's disease (membranous lipodystrophy). A case report. Acta Neuropathol. 1981;54(2):89–93. [PubMed]
  • Yagishita S, Ito Y, Sakai H, Amano N. Membranocystic lesions of the lung in Nasu-Hakola disease. Virchows Arch A Pathol Anat Histopathol. 1985;408(2-3):211–217. [PubMed]
  • Tokunaga M, Wakamatsu E, Sato M, Namiki O, Yokosawa A, Motomiya M. Lipid composition of adipose tissue from "membranous lipodystrophy". Tohoku J Exp Med. 1981 Apr;133(4):451–456. [PubMed]
  • Yokoi S, Suzuki K, Amano N, Yagishita S. Fatty acid analysis of galactolipids and ganglioside in the brains of four cases of Nasu-Hakola disease. Jpn J Psychiatry Neurol. 1989 Dec;43(4):695–701. [PubMed]
  • Sulkava R, Nordberg UR, Erkinjuntti T, Westermarck T. Erythrocyte glutathione peroxidase and superoxide dismutase in Alzheimer's disease and other dementias. Acta Neurol Scand. 1986 May;73(5):487–489. [PubMed]
  • Elleder M, Michalec C, Jirásek A, Khun K, Havlová M, Ranný M. Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature. Virchows Arch B Cell Pathol Incl Mol Pathol. 1989;57(6):367–374. [PubMed]
  • Chun SI, Chung KY. Membranous lipodystrophy: secondary type. J Am Acad Dermatol. 1994 Oct;31(4):601–605. [PubMed]
  • Snow JL, Su WP, Gibson LE. Lipomembranous (membranocystic) changes associated with morphea: a clinicopathologic review of three cases. J Am Acad Dermatol. 1994 Aug;31(2 Pt 1):246–250. [PubMed]
  • Honma T, Bang D, Saito T, Nakagawa S, Ueki H, Lee S. Appearance of membranocystic lesion (Nasu)-like changes in Behçet's syndrome. An electron microscopic study of erythema nodosum-like lesions. Acta Pathol Jpn. 1988 Aug;38(8):1001–1010. [PubMed]
  • Alegre VA, Winkelmann RK, Aliaga A. Lipomembranous changes in chronic panniculitis. J Am Acad Dermatol. 1988 Jul;19(1 Pt 1):39–46. [PubMed]
  • Sueki H, Shinmura Y, Fujisawa R, Jitsukawa K, Sato S. Ultrastructural study of the histogenesis of membranocystic lesions (Nasu) in diabetics. J Cutan Pathol. 1986 Oct;13(5):390–401. [PubMed]
  • Machinami R. Incidence of membranous lipodystrophy-like change among patients with limb necrosis caused by chronic arterial obstruction. Arch Pathol Lab Med. 1984 Oct;108(10):823–826. [PubMed]
  • Chun SI, Ahn SK, Kim SC. Membranous lipodystrophy: primary idiopathic type. J Am Acad Dermatol. 1991 May;24(5 Pt 2):844–847. [PubMed]

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