ISSN 2398-2969      

Neuronal ceroid lipofuscinosis

icanis

Synonym(s): NCL


Introduction

  • Cause: complex inherited neurodegenerative disease.
  • Signs: visual impairment, abnormal behaviour with aggression, tremor, ataxia and seizures.
  • Diagnosis: clinical signs, skin biopsy, brain biopsy, DNA testing in some breeds.
  • Treatment: none.
  • Prognosis: very poor.

Pathogenesis

Etiology

  • To date, mutations in 4 genes have been associated with NCL in dogs:CLN8in English Setters,CTSDin American Bulldogs,CLN5in Border Collie dogs and Golden retriever, and tripeptidyl peptidase (CLN2) in Miniature Longhaired Dachshunds.
  • Autosomal mode of inheritance described for English Setter, Tibetan Terrier and Border collie.

Pathophysiology

  • Complex inherited neurodegenerative disease.
  • Underlying pathogenesis not clearly understood.
  • Most probably due to a mitochondrial disturbance rather than a lysosomal one.
  • Lipopigment deposition in the neurons and other cells of the body can be seen on histopathology.
  • Fluorescence properties of the pigments that accumulate in the NCLs are similar to those of lipofuscin or age-related pigment that accumulates in a variety of cell types during senescence.
  • Major constituent of storage pigment has been described as a lipid-binding protein, which is a component (subunit c) of mitochondrial ATP synthase. Other storage material was identified as sphingolipid activator protein (or saposins) in the human infantile forms and in Miniature schnauzers with NCL.
  • Widespread accumulation of lysosomal storage material is associated with dysfunction of affected cells (suspected energy-linked excitotoxic mechanisms leading to continued influx of calcium into the neuron).
  • Mostly affects the cerebral cortex, particularly the occipital lobe, and cerebellum.

Timecourse

  • Rapidly progressive signs in most cases.
  • Slowly progressive over several months to years in some cases.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Mizukami K et al (2012) Neuronal ceroid lipofuscinosis in border collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). Scientific World Journal 2012, 383174 PubMed.
  • Nakamoto Y, Yamato O et al (2011) Neuronal ceroid-lipofuscinosis in Longhaired Chihuahuas: clinical, pathologic and MRI findings. J Am Anim Hosp Assoc 47 (4), e64-70 PubMed.
  • Wöhlke A et al (2011) A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PLoS Genet 7 (10), e1002304 PubMed.
  • Sanders D N, Farias F H et al (2010) A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab 100 (4), 349-356 PubMed.
  • O'Brien D P, Katz M L (2008) Neuronal ceroid lipofuscinosis in 3 Australian Shepherd littermates. J Vet Intern Med 22 (2), 472-475 PubMed.
  • Evans J, Katz M L et al (2005) A variant form of neuronal ceroid lipofuscinosis in American Bulldogs. J Vet Intern Med 19 (1), 44-51 PubMed.
  • Kuwamura M, Hattori R et al (2003) Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. J Small Anim Pract 44 (5), 227-230 PubMed.
  • Minatel L, Underwood S C, Carfagnini (2000) Ceroid-lipofuscinosis in a cocker spaniel dog. Vet Path 37 (5), 488-490 PubMed.

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