Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles

Robert J. Baumann, William R. Markesbery

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Lymphocytes from 3 children with a form of juvenile amaurotic idiocy (characterized by retinal blindness, progressive dementia, and extrapyramidal motor disturbance) were studied by electron microscopy. Numerous fingerprint profiles (FP) were found in vacuolated lymphocytes from all 3 patients and an asymptomatic younger sibling of 1 patient who subsequently became symptomatic. We propose that the combination of this clinical picture and vacuolated lymphocytes with FP is sufficiently distinctive for clinical and research purposes until the biochemical defect is discovered. Wider utilization of ultrastructural study of lymphocytes should increase the number of children diagnosed and allow detection of asymptomatic patients.

Original languageEnglish
Pages (from-to)531-536
Number of pages6
JournalAnnals of Neurology
Issue number6
StatePublished - Dec 1978

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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