A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler

The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of symptoms: infantile, late infantile, juvenile and adult NCLs. However, this classification cannot always predict the causative gene; i.e., CLN1, for example, causes not only infantile NCL but also late onset infantile and adult NCLs. In 2012, a new classification for the NCLs that takes into account recent genetic and biochemical advances. This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal), CLN1 (6-48 months), CLN14 (8-24 months), CLN2 (1-6 years), CLN3 (4-7 years), CLN5 (4-6 years), CLN6 (18 months-8 years), CLN7 (2-7 years) and CLN8 (5-10 years). There is no fundamental therapy, but there is the trial of some cures.

• Publication year

  2017

• Venue

  Journal of Alzheimers Disease & Parkinsonism

• Publication date

  2017-03-31

• Fields of study

  Medicine

• Identifiers
  DOI 10.4172/2161-0460.1000316
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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  2015influential reference
• Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

  2014cited by this paper
• Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

  2014cited by this paper
• Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

  2013cited by this paper
• Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

  2013cited by this paper
• New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

  2012cited by this paper
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  2012cited by this paper
• Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

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  2007cited by this paper
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  2006cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2001cited by this paper
• Biochemical Characterization of a Lysosomal Protease Deficient in Classical Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) and Development of an Enzyme‐Based Assay for Diagnosis and Exclusion of LINCL in HUman Specimens and Animal Models

  1999influential reference
• Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

  1995cited by this paper
• Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

  1994cited by this paper
• Neuronal ceroid-lipofuscinoses in childhood.

  1993cited by this paper
• Kufs disease: clinical features and forms.

  1988cited by this paper
• Leukocyte Peroxidase Deficiency in a Family with a Dominant Form of Kuf's Disease

  1974cited by this paper

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

  2024cites this paper