Neuronal ceroid lipofuscinosis

Detection of atypical forms

N. Nardocci, M. Morbin, M. Bugiani, E. Lamantea, O. Bugiani

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative diseases occurring in infancy and adulthood. Atypical forms of these diseases have been described and are particularly represented in the late-infantile and juvenile onset groups. Recent progress in biochemistry and molecular genetics has identified some of these variants as separate disease entities while disclosing the phenotypic variability of some classic forms. We report the results of a retrospective analysis performed on a series of 27 NCL patients, 15 of which were atypical as to clinical and/or pathological findings. Most of such patients, belonging to the late-infantile onset group and displaying homogeneous clinical-pathological features, were suggestive for CLN6. The two atypical juvenile NCL patients had features which resembled the 'protracted form' of the disease. Given their relative frequency, strict clinical and pathological criteria are still the most useful tools for identifying and characterizing atypical forms and for defining phenotype-genotype correlations.

Original languageEnglish
JournalNeurological Sciences
Volume21
Issue number3 SUPPL.
Publication statusPublished - 2000

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Neuronal Ceroid-Lipofuscinoses
Genetic Association Studies
Neurodegenerative Diseases
Biochemistry
Molecular Biology

Keywords

  • Atypical forms
  • NCL

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Cite this

Neuronal ceroid lipofuscinosis : Detection of atypical forms. / Nardocci, N.; Morbin, M.; Bugiani, M.; Lamantea, E.; Bugiani, O.

In: Neurological Sciences, Vol. 21, No. 3 SUPPL., 2000.

Research output: Contribution to journalArticle

Nardocci, N, Morbin, M, Bugiani, M, Lamantea, E & Bugiani, O 2000, 'Neuronal ceroid lipofuscinosis: Detection of atypical forms', Neurological Sciences, vol. 21, no. 3 SUPPL..
Nardocci, N. ; Morbin, M. ; Bugiani, M. ; Lamantea, E. ; Bugiani, O. / Neuronal ceroid lipofuscinosis : Detection of atypical forms. In: Neurological Sciences. 2000 ; Vol. 21, No. 3 SUPPL.
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