Neuronal ceroid lipofuscinosis (NCL) type 3 (CLN3)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 3 (cln3): Genetics This is caused by mutations in the NCL3 gene on chromosome 16 The transmission is autosomal recessive It causes juvenile onset NCL (JNCL): Spielmeyer-Vogt-Sjogren (Batten) syndrome Juvenile onset age…

Genetics

  • This is caused by mutations in the NCL3 gene on chromosome 16
  • The transmission is autosomal recessive
  • It causes juvenile onset NCL (JNCL): Spielmeyer-Vogt-Sjogren (Batten) syndrome
  • Juvenile onset age is 4-8 years

Neurological features

Psychiatric features

Ophthalmic features

Cardiac features

Investigations

References

  1. Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol 2009; 54:463-471. 
  2. Wisniewski KE, Zhong N, Kaczmarski W, et al. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol 1998; 43:106-110.
  3. Ouseph MM, Kleinman ME, Wang QJ. Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). Ann N Y Acad Sci 2016; 1371:55-67. 
  4. Nielsen AK, Drack AV, Ostergaard JR. Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). Ophthalmic Genet 2015; 36:39-42. 
  5. Murata S, Kasiwagi M, Tanabe T, Nakajima O, Tamai H. Juvenile neuronal ceroid-lipofuscinosis with hypertrophic cardiomyopathy and left ventricular noncompaction: a case report. Rinsho Shinkeigaku 2015; 55:186-187.
  6. And 1 more. Subscribe to see the full list

Related checklists

Loading...