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Article

Studies of atypical JNCL suggest overlapping with other NCL forms.

Pediatric neurology - 1 Jan 1998

Wisniewski K E, Zhong N, Kaczmarski W, Kaczmarski A, Sklower-Brooks S, Brown W T

Abstract excerpt

In the United States, juvenile neuronal ceroid-lipofuscinosis (JNCL) is the most common form of NCL. This study analyzed 191 cases, diagnosed on the basis of age-at-onset, clinical symptomatology, and pathologic findings. Twenty percent (40/191) of these cases from 24/120 families manifested atypical clinical symptomatology and/or pathologic findings (typical revealed fingerprints and atypical revealed mixed...

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Source

Identifiers

PMID: 9492089
DOI: 10.1016/s0887-8994(97)00188-4

Genes

NCL
CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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