Early-onset Parkinson disease

Gene: DNAJC5

Green List (high evidence)

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present. Parkinsonism has been described in some. The (346_348delCTC) variant is recurrent, without evidence of founder effect.

Created: 22 Sep 2020, 6:09 a.m. | Last Modified: 22 Sep 2020, 6:09 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350

Publications

• 22978711
• 21820099
• 22235333