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References

These sources were used to develop the Genetics Home Reference condition summary on Kufs disease.

Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review. PubMed citation
Josephson SA, Schmidt RE, Millsap P, McManus DQ, Morris JC. Autosomal dominant Kufs' disease: a cause of early onset dementia. J Neurol Sci. 2001 Jul 15;188(1-2):51-60. PubMed citation
Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA. Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord. 2002 May;17(3):482-7. PubMed citation
Ramadan H, Al-Din AS, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson M, Anderson G, Green E, Mole SE. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology. 2007 Jan 30;68(5):387-8. PubMed citation
Sadzot B, Reznik M, Arrese-Estrada JE, Franck G. Familial Kufs' disease presenting as a progressive myoclonic epilepsy. J Neurol. 2000 Jun;247(6):447-54. PubMed citation

Reviewed: September 2010

Published: June 17, 2013