Literature DB >> 189559

The protracted form of juvenile neuronal ceroid-lipofuscinosis.

H H Goebel, H Pilz, F Gullotta.   

Abstract

Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.

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Mesh：

Year:  1976        PMID： 189559     DOI： 10.1007/bf00699645

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


  7 in total

1.  [ON THE ULTRASTRUCTURE OF STORED SUBSTANCES IN LATE CASES OF FAMILIAL AMAUROTIC IDIOCY].

Authors:  J E PICO
Journal:  Acta Neuropathol       Date:  1964-03-04       Impact factor: 17.088

2.  Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship.

Authors:  I Rapin; K Suzuki; K Suzuki; M P Valsamis
Journal:  Arch Neurol       Date:  1976-02

3.  [Clinical and ultrastructural observations in a case of juvenile amaurotic idiocy with protracted course (author's transl)].

Authors:  G Ebhardt; J Cervós-Navarro; P Bürgel
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1973-11-27

4.  [Pigment variant of the adult type of amaurotic idiocy (Kufs) (author's transl)].

Authors:  H Jakob; F W Kolkmann
Journal:  Acta Neuropathol       Date:  1973-11-05       Impact factor: 17.088

5.  Generalized lipofuscinosis (generalized Kufs' disease).

Authors:  M Kornfeld
Journal:  J Neuropathol Exp Neurol       Date:  1972-10       Impact factor: 3.685

6.  Electron microscopy of storage cytosomes in Kufs' disease.

Authors:  S M Chou; H G Thompson
Journal:  Arch Neurol       Date:  1970-12

7.  Childhood, juvenile, and adult cerebral lipidoses. Are these different nosological entities?

Authors:  A S Dekaban; M M Herman
Journal:  Arch Pathol       Date:  1974-02
  7 in total
  6 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.  Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease).

Authors:  K E Wisniewski; D Maslinska
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

3.  Dolichol metabolism in cultured skin fibroblasts from patients with "neuronal" ceroid lipofuscinosis (Batten's disease).

Authors:  B C Paton; A Poulos
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Autofluorescence emission spectra of neuronal lipopigment in a case of adult-onset ceroidosis (Kufs' disease).

Authors:  J H Dowson
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

Review 5.  Protracted juvenile neuronal ceroid-lipofuscinosis.

Authors:  H H Goebel
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Authors:  Josefine Radke; Randi Koll; Esther Gill; Lars Wiese; Angela Schulz; Alfried Kohlschütter; Markus Schuelke; Christian Hagel; Werner Stenzel; Hans H Goebel
Journal:  Ann Clin Transl Neurol       Date:  2018-10-14       Impact factor: 4.511
  6 in total

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