Neuronal ceroid-lipofuscinose
Autosomal recessiv
En gruppe arvelige, progressive degenerative hjernesygdomme, der klinisk kendetegnes ved tab af mentale og andre evner, epilepsi og synstab på grund af retinal degeneration, og histopatologisk ved intracellulær ophobning af det autofluorescerende materiale ceroid-lipofuscin i nerveceller i hjernen og i nethinden.
Også kendt som
ceroid lipofuscinoses; NCL
Omfatter 39 beslægtede undertyper ↓Skjul undertyper ↑
- adult neuronal ceroid lipofuscinosis
- adult neuronal ceroid lipofuscinosis 1
- adult neuronal ceroid lipofuscinosis 5
- ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- ceroid lipofuscinosis, neuronal, 6A
- ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- congenital neuronal ceroid lipofuscinosis
- congenital neuronal ceroid lipofuscinosis 10
- infantile neuronal ceroid lipofuscinosis
- infantile neuronal ceroid lipofuscinosis 1
- infantile neuronal ceroid lipofuscinosis 2
- juvenile neuronal ceroid lipofuscinosis
- juvenile neuronal ceroid lipofuscinosis 1
- juvenile neuronal ceroid lipofuscinosis 10
- juvenile neuronal ceroid lipofuscinosis 2
- juvenile neuronal ceroid lipofuscinosis 3
- juvenile neuronal ceroid lipofuscinosis 5
- juvenile neuronal ceroid lipofuscinosis 6
- late infantile neuronal ceroid lipofuscinosis 1
- late infantile neuronal ceroid lipofuscinosis 10
- late infantile neuronal ceroid lipofuscinosis 2
- late infantile neuronal ceroid lipofuscinosis 5
- late infantile neuronal ceroid lipofuscinosis 6
- late infantile neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 1
- neuronal ceroid lipofuscinosis 10
- neuronal ceroid lipofuscinosis 11
- neuronal ceroid lipofuscinosis 13
- neuronal ceroid lipofuscinosis 15
- neuronal ceroid lipofuscinosis 2
- neuronal ceroid lipofuscinosis 3
- neuronal ceroid lipofuscinosis 5
- neuronal ceroid lipofuscinosis 7
- neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- neuronal ceroid lipofuscinosis 9
- parkinsonism due to ATP13A2 deficiency
- progressive myoclonic epilepsy type 3
- protracted juvenile neuronal ceroid lipofuscinosis 3
