Neuronal ceroid lipofuscinosis (NCL) type 2 (CLN2)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 2 (cln2): Genetics This is caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene on chromosome 11 The transmission is autosomal recessive It causes late infantile onset NCL (LINCL): Jansky-Bielschowsky…

Genetics

  • This is caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene on chromosome 11
  • The transmission is autosomal recessive
  • It causes late infantile onset NCL (LINCL): Jansky-Bielschowsky syndrome

Cognitive features

Seizure types

Movement disorders

Visual features

Other features

Differential diagnosis

Magnetic resonance imaging (MRI)

Magnetic resonance spectroscopy (MRS)

Electroencephalogram (EEG)

Metabolic tests

Enzyme replacement therapy

Investigational treatments

References

  1. Kim K, Kleinman HK, Lee HJ, Pahan K. Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders. Orphanet J Rare Dis 2017; 12:113.
  2. Kohlschütter A, Schulz A. CLN2 disease (classic late infantile neuronal ceroid lipofuscinosis). Pediatr Endocrinol Rev 2016; 13(Suppl 1):682-688.
  3. Saini AG, Sankhyan N, Singhi P. Chorea in late-infantile neuronal ceroid lipofuscinosis: an atypical presentation. Pediatr Neurol 2016; 60:75-78. 
  4. Specchio N, Bellusci M, Pietrafusa N, Trivisano M, de Palma L, Vigevano F. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease. Epilepsia 2017; 58:1380-1388.
  5. Berkovic SF, Staropoli JF, Carpenter S, et al; ANCL Gene Discovery Consortium. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology 2016; 87:579-584.
  6. And 4 more. Subscribe to see the full list

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