Neuronal ceroid lipofuscinoses

Clinical and EEG findings in a large study of Italian cases

E. Veneselli, R. Biancheri, M. V. Perrone, S. Buoni, A. Fois

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

We reviewed the clinical and EEG features of 30 Italian patients with childhood-onset neuronal ceroid lipo-fuscinosis (NCL). The outcome and the EEG pattern of the 4 infantile NCL cases were classic, although the age at onset of symptoms varied from 1.0 to 3.5 years. This latter finding is unusual and has not been reported for other Italian patients. Both typical and variant cases of late-infantile NCL (LINCL) were observed. This NCL type represents the most common form in our country, and was the largest group (18 cases) in our study. A particular pseudoperiodic EEG pattern was observed in 15 of the 18 patients with LINCL. This pattern may be useful in early diagnosis, especially if associated with the absence of sleep spindles. In the 8 cases with juvenile NCL, clinical and EEG findings were similar to those reported in the literature.

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

Fingerprint

Ceroid
Neuronal Ceroid-Lipofuscinoses
Electroencephalography
Age of Onset
Early Diagnosis
Sleep

Keywords

  • Childhood
  • Diagnosis
  • EEG
  • Infancy
  • Neuronal ceroid lipofuscinoses

ASJC Scopus subject areas

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

Cite this

Neuronal ceroid lipofuscinoses : Clinical and EEG findings in a large study of Italian cases. / Veneselli, E.; Biancheri, R.; Perrone, M. V.; Buoni, S.; Fois, A.

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

Research output: Contribution to journalArticle

Veneselli, E. ; Biancheri, R. ; Perrone, M. V. ; Buoni, S. ; Fois, A. / Neuronal ceroid lipofuscinoses : Clinical and EEG findings in a large study of Italian cases. In: Neurological Sciences. 2000 ; Vol. 21, No. 3 SUPPL.
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