Kufs disease

Definition:

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided into two types. Type A presents with progressive myoclonus epilepsy, whereas type B presents with dementia and a variety of motor disturbances. It has been reported that mutations in CLN6 cause recessive type A Kufs disease. Mutations in DNAJC5 have been found in some cases of dominant Kufs disease, also presenting with progressive myoclonus epilepsy. Mutations in CTSF were recently identified in recessive type B Kufs disease.

References:

[1]. Katherine R Smith, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. [Content Brief]

[2]. Lenka Nosková, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet. 2011 Aug 12;89(2):241-52. [Content Brief]

[3]. Todor Arsov, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011 May 13;88(5):566-73. [Content Brief]

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