Literature DB >> 1621503

The adult and a new late adult forms of neuronal ceroid lipofuscinosis.

J Constantinidis1, K E Wisniewski, T M Wisniewski.   

Abstract

Three cases of the late adult form of neuronal ceroid lipofuscinosis (NCL) are reported. Two of these are siblings with a late clinical onset at ages 26 and 44 years. The third case, sporadic, has the oldest reported age for the onset of NCL, at 63 years and may be regarded as the first example of the "presenile" form of NCL. The clinical, morphological, histochemical, ultrastructural and genetic features of these three cases are discussed. The literature of the clinicopathological NCL cases with an onset at age of 25 and older is reviewed. The clinical and morphological differences between the late adult form and the presenile form of NCL as well as the difficulties in making the diagnosis are discussed.

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Year:  1992        PMID: 1621503     DOI: 10.1007/bf00310021

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


  22 in total

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  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.  Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Authors:  Todor Arsov; Katherine R Smith; John Damiano; Silvana Franceschetti; Laura Canafoglia; Catherine J Bromhead; Eva Andermann; Danya F Vears; Patrick Cossette; Sulekha Rajagopalan; Alan McDougall; Vito Sofia; Michael Farrell; Umberto Aguglia; Andrea Zini; Stefano Meletti; Michela Morbin; Saul Mullen; Frederick Andermann; Sara E Mole; Melanie Bahlo; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

Review 3.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

4.  A yeast model for the study of Batten disease.

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Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-09       Impact factor: 11.205

5.  Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study.

Authors:  J Tyynelä; M Baumann; M Henseler; K Sandhoff; M Haltia
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

Review 6.  Progressive myoclonic epilepsy.

Authors:  Mary L Zupanc; Benjamin Legros
Journal:  Cerebellum       Date:  2004       Impact factor: 3.648

  6 in total

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