Literature DB >> 855647

Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement.

E Kott, G Delpre, U Kadish, M Dziatelovsky, U Sandbank.   

Abstract

A 26-year old male suffered from Abeta-lipoproteinemia (Bassen-Kornzweig disease). In addition to C.N.S. lesions, he had myopathy. A muscle biopsy revealed accumulation of ceroid pigment in the striated muscle. A few muscle fibers showed severe degeneration of the myofibrils. Fibroblasts and macrophages in the interstitial tissue contained abundant ceroid. The relation between ceroid accumulation, abetalipoproteinemia and vitamin E-deficiency is discussed.

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Year:  1977        PMID： 855647     DOI： 10.1007/BF00686887

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


  8 in total

1.  THE EFFECTS OF A DIET PRODUCING LIPOCHROME PIGMENT (CEROID) ON THE ULTRASTRUCTURE OF SKELETAL MUSCLE IN THE RAT.

Authors:  E L HOWES; H M PRICE; J M BLUMBERG
Journal:  Am J Pathol       Date:  1964-10       Impact factor: 4.307

2.  DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

Authors:  L A SOBREVILLA; M L GOODMAN; C A KANE
Journal:  Am J Med       Date:  1964-11       Impact factor: 4.965

3.  Deposits of fluorescent acid-fast products in the nervous system and skeletal muscles of adult rats with chronic vitamin-E deficiency.

Authors:  L EINARSON
Journal:  J Neurol Neurosurg Psychiatry       Date:  1953-05       Impact factor: 10.154

4.  Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Authors:  F A BASSEN; A L KORNZWEIG
Journal:  Blood       Date:  1950-04       Impact factor: 22.113

Review 5.  Abetalipoproteinemia.

Authors:  H J Kayden
Journal:  Annu Rev Med       Date:  1972       Impact factor: 13.739

6.  Fine structural changes in the sural nerve of patients with acanthocytosis.

Authors:  P L Lantos; M J Aminoff
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

7.  Familial hypo-beta-lipoproteinemia: a genetic disorder of lipid metabolism with nervous system involvement.

Authors:  H Mars; L A Lewis; A L Robertson; A Butkus; G H Williams
Journal:  Am J Med       Date:  1969-06       Impact factor: 4.965

8.  Increased rate of rapid axonal transport in vitamin E deficient rats.

Authors:  P L Wood; R J Boegman
Journal:  Brain Res       Date:  1975-02-07       Impact factor: 3.252
  8 in total
  4 in total

Review 1.  Insights from human congenital disorders of intestinal lipid metabolism.

Authors:  Emile Levy
Journal:  J Lipid Res       Date:  2014-11-11       Impact factor: 5.922

2.  Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia.

Authors:  I Higuchi; T Yamano; M Kuriyama; K Niina; M Nakase; M Umemoto; H Take; M Osame
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

3.  Allele-specific regulation of MTTP expression influences the risk of ischemic heart disease.

Authors:  Anna Aminoff; Helena Ledmyr; Petra Thulin; Kerstin Lundell; Leyla Nunez; Elisabeth Strandhagen; Charlotte Murphy; Ulf Lidberg; Jukka Westerbacka; Anders Franco-Cereceda; Jan Liska; Lars Bo Nielsen; Mats Gåfvels; Maria Nastase Mannila; Anders Hamsten; Hannele Yki-Järvinen; Dag Thelle; Per Eriksson; Jan Borén; Ewa Ehrenborg
Journal:  J Lipid Res       Date:  2010-01       Impact factor: 5.922

Review 4.  Abetalipoproteinemia: two case reports and literature review.

Authors:  Rola Zamel; Razi Khan; Rebecca L Pollex; Robert A Hegele
Journal:  Orphanet J Rare Dis       Date:  2008-07-08       Impact factor: 4.123
  4 in total

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