Neuronal ceroid lipofuscinosis (NCL) type 7 (CLN7)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 7 (cln7): Genetics This is caused by mutations in the MFSD8 gene on chromosome 4 The transmission is autosomal recessive It causes Turkish variant late infantile onset (vturkLINCL) Late infantile onset age is 2-7 years…

Genetics

  • This is caused by mutations in the MFSD8 gene on chromosome 4
  • The transmission is autosomal recessive
  • It causes Turkish variant late infantile onset (vturkLINCL)
  • Late infantile onset age is 2-7 years

Developmental features

Psychiatric features

Neurological features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Electroencephalogram (EEG): features

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. Mandel H, Cohen Katsanelson K, et al. Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. Eur J Med Genet 2014; 57:607-612.
  3. Kousi M, Siintola E, Dvorakova L, et al. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain 2009; 132:810-819. 
  4. Topçu M, Tan H, Yalnizoğlu D, et al. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. Turk J Pediatr 2004; 46:1-10.
  5. Stogmann E, El Tawil S, Wagenstaller J, et al. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 2009; 10:73-77. 
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