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.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H02276 Kufs disease
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF
Title
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
