Neuronal ceroid lipofuscinosis (NCL) type 4 (CLN4)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 4 (cln4): Genetics This is caused by mutations in the DNAJC5 (CLN4) gene on chromosome 15 The gene encodes cysteine-string protein alpha (CSPα) The transmission is autosomal recessive It causes adult onset NCL (ANCL):…

Genetics

  • This is caused by mutations in the DNAJC5 (CLN4) gene on chromosome 15
  • The gene encodes cysteine-string protein alpha (CSPα)
  • The transmission is autosomal recessive
  • It causes adult onset NCL (ANCL): Parry (Kufs) disease
  • Adult onset age is 12-60 years

Cerebral features

Movement disorders

Psychiatric features

Other features

Differential diagnosis

Investigations

References

  1. Cotman SL, Karaa A, Staropoli JF, Sims KB. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep 2013; 13:366. 
  2. 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. 
  3. Goebel HH, Braak H. Adult neuronal ceroid-lipofuscinosis. Clin Neuropathol 1989; 8:109-119. 
  4. Tobo M, Mitsuyama Y, Ikari K, Itoi K. Familial occurrence of adult-type neuronal ceroid lipofuscinosis. Arch Neurol 1984; 41:1091-1094.
  5. Sadzot B, Reznik M, Arrese-Estrada JE, Franck G. Familial Kufs' disease presenting as a progressive myoclonic epilepsy. J Neurol 2000; 247:447-454.
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