Literature DB >> 172609

Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.

H H Goebel, W Zeman, H Pilz.   

Abstract

Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.

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Year:  1975        PMID： 172609      PMCID： PMC492133          DOI： 10.1136/jnnp.38.10.985

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  15 in total

1.  Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis.

Authors:  J Rapola; M Haltia
Journal:  Brain       Date:  1973-12       Impact factor: 13.501

2.  Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy.

Authors:  S Carpenter; G Karpati; F Andermann
Journal:  Neurology       Date:  1972-02       Impact factor: 9.910

3.  "Ragged-red" fibers in Leigh's disease.

Authors:  T W Crosby; S M Chou
Journal:  Neurology       Date:  1974-01       Impact factor: 9.910

4.  Morphologic study of a neuromyopathy caused by prolonged chloroquine treatment.

Authors:  J M Gérard; N Stoupel; A Collier; J Flament-Durand
Journal:  Eur Neurol       Date:  1973       Impact factor: 1.710

5.  [Electron microscopic study of skeletal muscle changes in Parkinson diseases].

Authors:  M Tomonaga; H Tanabe
Journal:  Rinsho Shinkeigaku       Date:  1973-02

6.  Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies.

Authors:  M Haltia; J Rapola; P Santavuori
Journal:  Acta Neuropathol       Date:  1973-10-11       Impact factor: 17.088

7.  Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy?

Authors:  W Zeman; P Dyken
Journal:  Pediatrics       Date:  1969-10       Impact factor: 7.124

8.  Tocopherol deficiency in man.

Authors:  H J Binder; D C Herting; V Hurst; S C Finch; H M Spiro
Journal:  N Engl J Med       Date:  1965-12-09       Impact factor: 91.245

9.  Tissue distribution of chloroquine, hydroxychloroquine, and desethylchloroquine in the rat.

Authors:  E W McChesney; W F Banks; R J Fabian
Journal:  Toxicol Appl Pharmacol       Date:  1967-05       Impact factor: 4.219

10.  Tissue distribution of glycosphingolipids in a case of Fabry's disease.

Authors:  J M Schibanoff; S Kamoshita; J S O'Brien
Journal:  J Lipid Res       Date:  1969-09       Impact factor: 5.922
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  15 in total

Review 1.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

2.  Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V.

Authors:  H Braak; H H Goebel
Journal:  Acta Neuropathol       Date:  1979-04-12       Impact factor: 17.088

3.  Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.

Authors:  F M Tomé; P Brunet; M Fardeau; F Hentati; J Reix
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

4.  Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein.

Authors:  K E Wisniewski; D Maslinska; T Kitaguchi; K S Kim; H H Goebel; M Haltia
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

5.  Tubulomembranous and fingerprint-like inclusions in biopsied muscle of distal myopathy with rimmed vacuoles.

Authors:  S Kuzuhara; T Nakanishi
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

6.  Loss of pigment-laden stellate cells: a severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis.

Authors:  H Braak; H H Goebel
Journal:  Acta Neuropathol       Date:  1978-04-26       Impact factor: 17.088

7.  Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other.

Authors:  R Dom; J M Brucher; C Ceuterick; H Carton; J J Martin
Journal:  Acta Neuropathol       Date:  1979-01-12       Impact factor: 17.088

8.  Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.

Authors:  K Ikeda; H H Goebel; U Burck; A Kohlschütter
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

9.  A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes.

Authors:  B Badurska; A Fidziańska; H Jedrzejowska
Journal:  J Neurol       Date:  1981       Impact factor: 4.849

10.  Dense core mitochondria in peripheral ganglia of man.

Authors:  H H Goebel
Journal:  Acta Neuropathol       Date:  1976-09-15       Impact factor: 17.088
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