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Article

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Journal of the neurological sciences - 15 Jan 2025

Thuppanattumadam Ananthasubramanian Sangeeth, Padmanabha Hansashree, Ravindranadh C M, Kenchiah Raghavendra, Bhatia Saloni, Santhoshkumar Rashmi, Kumar Tumulu Seetam, Sukrutha Ramya, Arunachal Gautham, Karthik K, Nagappa Madhu, Nashi Saraswati, Mahale Rohan, Viswananthan L G, Pooja M, Nagaraj A R, Ravi Shekar J, Yasha T C, Mahadevan Anita, Sinha Sanjib

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and...

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Identifiers

PMID: 39675099
DOI: 10.1016/j.jns.2024.123338

Genes

CLN6
CLN8
MFSD8
TPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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