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Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

The Turkish journal of pediatrics - 1 Jan 2000

Topçu Meral, Tan Hüseyin, Yalnizoğlu Dilek, Usubütün Alp, Saatçi Işil, Aynaci Müjgan, Anlar Banu, Topaloğlu Haluk, Turanli Güzide, Köse Gülşen, Aysun Sabiha

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is one of the most common progressive neurodegenerative diseases seen in childhood. NCL is inherited as autosomal recessive trait, and is characterized by the accumulation of 'ceroid lipofuscin' in neuronal and extraneuronal cells. Clinical features include se...

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PMID: 15074367

Genes

NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15074367-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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