Neuronal ceroid lipofuscinosis (NCL): classification by genetic mutations

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl): classification by genetic mutations: CLN type 1: Santavuori-Haltia syndrome This is caused by mutations in the palmitoyl protein thioesterase1 (PPT1) gene This is on chromosome 1 The transmission is autosomal recessive CLN…

CLN type 1: Santavuori-Haltia syndrome

  • This is caused by mutations in the palmitoyl protein thioesterase1 (PPT1) gene
  • This is on chromosome 1
  • The transmission is autosomal recessive

CLN type 2: Jansky-Bielschowsky syndrome

CLN type 3: Spielmeyer-Vogt-Sjogren (Batten) syndrome

CLN type 4: Parry (Kuf’s) disease

CLN type 5

CLN type 6

CLN type 7

CLN type 8

CLN type 9

CLN type 10

CLN type 11

CLN type 12

CLN type 13

CLN type 14

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. Warrier V, Vieira M, Mole SE. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochim Biophys Acta 2013; 1832:1827-1830. 
  5. Marotta D, Tinelli E, Mole SE. NCLs and ER: a stressful relationship. Biochim Biophys Acta 2017; 1863:1273-1281.
  6. And 1 more. Subscribe to see the full list

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