A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes in Congenital to Preschooler

Shimono, Masayuki; Senju, Ayako

doi:10.4172/2161-0460.1000316

Cited by 1 publication

(1 citation statement)

References 14 publications

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“…Among patients, there are differences in the onset age and course of the disease which leads to difficulty in categorizing NCL subtypes [3]. NCLaffected patients have been classified according to the clinical onset of symptoms, into six categories (Classic Adult-Onset Neuronal Ceroid Lipofuscinosis, Finnish variant Neuronal Ceroid Lipofuscinosis, variant Late Infantile Neuronal Ceroid Lipofuscinosis, Turkish variant Neuronal Ceroid Lipofuscinosis, and Congenital Neuronal Ceroid Lipofuscinosis), however, the overlap of clinical and genetic traits prevents certain patients from being easily categorized into a particular group [4]. However, ultrastructural pattern classified NCL types into granular osmiophilic deposits, curvilinear profiles, rectilinear profiles and fingerprint profiles [5].…”

Section: Introductionmentioning

confidence: 99%

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Srour,

Zaki,

Abd El-Fattah

et al. 2024

Azhar International Journal of Pharmaceutical and Medical Scien

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Neuronal ceroid lipofuscinoses (NCL), the commonest autosomal recessive neurodegenerative disorder, is marked by an accumulation of auto-fluorescent storage material, primarily in neurons. NCL affects the neurons and causes damage due to accumulation of auto-fluorescent lysosomal storage material inside the neuronal cytoplasm. Although it is a rare fatal childhood disorder, childhood, patients born with it suffer life threatening complications and disabilities that deteriorates their quality of life. The current study aims to screen for mutations in CLN 6,7, and 14 genes in twenty Egyptian patients clinically diagnosed with seizures, Retinal degeneration, progressive mental deterioration and ataxia, using direct Sanger sequencing. Two reported mutations have been detected in CLN6 gene, homozygous missense (c.299T>G) and 3-bp deletion (c.711_713delCTT) in two different cases who are not siblings, and the other eighteen patients had no genetic defects in the enrolled genes. Further studies on larger number of participants are required in order to further clarify the causative CLN genes, particularlyCLN6, CLN7 and CLN14 among Egyptian patients.

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Section: Introductionmentioning

confidence: 99%