Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 1 (cln1): Genetics This is caused by mutations in the palmitoyl protein thioesterase1 (PPT1) gene This is on chromosome 1 The transmission is autosomal recessive It causes infantile onset NCL (INCL): Santavuori-Haltia…

Genetics

  • This is caused by mutations in the palmitoyl protein thioesterase1 (PPT1) gene
  • This is on chromosome 1
  • The transmission is autosomal recessive
  • It causes infantile onset NCL (INCL): Santavuori-Haltia syndrome
  • The onset is in infancy but juvenile and adult forms have been reported

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI): features

Magnetic resonance spectroscopy

Investigational treatments

References

  1. Nita DA, Mole SE, Minassian BA. Neuronal ceroid lipofuscinoses. Epileptic Disord 2016; 18:73-88. 
  2. Kohan R, Cismondi IA, Oller-Ramirez AM, et al. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Curr Pharm Biotechnol 2011; 12:867-883. 
  3. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
  4. Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol 2009; 54:463-471. 
  5. Canafoglia L, Gilioli I, Invernizzi F, et al. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology 2015; 85:316-324.
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