En grupp svåra, nervnedbrytande sjukdomar kännetecknade av intracellulär ansamling av självfluorescerande, vaxliknande ämnen (ceroid, lipofuskin) i nervcellerna. Det finns ett flertal undertyper, baserade på mutationer i olika gener, tid för debut och nervdefekternas svårighetsgrad, som t ex fortskridande demens, krampanfall och synsvikt.
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Battens sjukdom — Spielmeyer-Vogts sjukdom — Stengel-Batten-Spielmayer-Vogts sjukdom — Ceroidlagringssjukdom — Lipofuscinlagringssjukdom
Neuronal Ceroid Lipofuscinoses — Ceroid-Lipofuscinosis, Neuronal — Lipofuscin Storage Disease — Disease, Lipofuscin Storage — Lipofuscin Storage Diseases — Storage Disease, Lipofuscin — Neuronal Ceroid-Lipofuscinosis — Ceroid Storage Disease — Ceroid Storage Diseases — Disease, Ceroid Storage — Storage Disease, Ceroid — Neuronal Ceroid Lipofuscinosis — Ceroid Lipofuscinosis, Neuronal — Lipofuscinosis, Neuronal Ceroid — Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive — CLN4A — CLN4As — Kufs Disease Autosomal Recessive — Kufs Disease, Autosomal Recessive — Late-Infantile Neuronal Ceroid Lipofuscinosis — Neuronal Ceroid Lipofuscinosis, Late Infantile — Neuronal Ceroid Lipofuscinosis, Late-Infantile — Jansky-Bielschowsky Disease — Jansky Bielschowsky Disease — Juvenile Neuronal Ceroid Lipofuscinosis — Vogt-Spielmeyer Disease — Disease, Vogt-Spielmeyer — Neuronal Ceroid Lipofuscinosis Juvenile Type — Ceroid Lipofuscinosis, Neuronal 3, Juvenile — Juvenile Batten Disease — Batten Disease, Juvenile — Batten Diseases, Juvenile — Disease, Juvenile Batten — Juvenile Batten Diseases — CLN3-Related Neuronal Ceroid-Lipofuscinosis — CLN3 Related Neuronal Ceroid Lipofuscinosis — CLN3-Related Neuronal Ceroid-Lipofuscinoses — Ceroid-Lipofuscinosis, CLN3-Related Neuronal — Neuronal Ceroid-Lipofuscinoses, CLN3-Related — Neuronal Ceroid-Lipofuscinosis, CLN3-Related — Juvenile Cerebroretinal Degeneration — Cerebroretinal Degeneration, Juvenile — Cerebroretinal Degenerations, Juvenile — Juvenile Cerebroretinal Degenerations — Batten Disease — Batten-Mayou Disease — Batten Mayou Disease — Spielmeyer-Vogt Disease — Spielmeyer Vogt Disease — Neuronal Ceroid Lipofuscinosis, Juvenile — Ceroid Lipofuscinosis, Neuronal, 3 — Spielmeyer-Sjogren Disease — Disease, Spielmeyer-Sjogren — Spielmeyer Sjogren Disease — Batten-Spielmeyer-Vogt Disease — Batten Spielmeyer Vogt Disease — Vogt Spielmeyer Disease — Disease, Vogt Spielmeyer — Spielmeyer Disease, Vogt — Adult Neuronal Ceroid Lipofuscinosis — Kuf's Disease — Disease, Kuf's — Kuf Disease — Kufs Type Neuronal Ceroid Lipofuscinosis — Ceroid Lipofuscinosis, Neuronal 4 — Neuronal Ceroid Lipofuscinosis, Adult Type — Neuronal Ceroid Lipofuscinosis, Adult — Kufs Disease — Amaurotic Idiocy, Adult Type — Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant — Kufs Disease, Autosomal Dominant — CLN4B — Ceroid Lipofuscinosis, Neuronal, Parry Type — Infantile Neuronal Ceroid Lipofuscinosis — Santavuori-Haltia Disease — Santavuori Haltia Disease — Neuronal Ceroid Lipofuscinosis, Infantile