Neuronal ceroid lipofuscinosis (NCL) type 2 (CLN2)

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

Neuronal ceroid lipofuscinosis (NCL) type 2 (CLN2). This is caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene on chromosome 11.

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

Locked: subscribe to see this section.

Seizure types

Locked: subscribe to see this section.

Movement disorders

Locked: subscribe to see this section.

Visual features

Locked: subscribe to see this section.

Other features

Locked: subscribe to see this section.

Differential diagnosis

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI)

Locked: subscribe to see this section.

Magnetic resonance spectroscopy (MRS)

Locked: subscribe to see this section.

Electroencephalogram (EEG)

Locked: subscribe to see this section.

Metabolic tests

Locked: subscribe to see this section.

Enzyme replacement therapy

Locked: subscribe to see this section.

Investigational treatments

Locked: subscribe to see this section.

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

Related checklists

Loading...