Neuronal ceroid lipofuscinosis (NCL) type 14 (CLN14)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neuronal ceroid lipofuscinosis (NCL) type 14 (CLN14). This is caused by mutations in the KCTD7 gene on chromosome 7. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the KCTD7 gene on chromosome 7
  • The transmission is autosomal recessive

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Staropoli JF, Karaa A, Lim ET, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet 2012; 91:202-208.

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