Neuronal Ceroid-Lipofuscinoses

Neuronal ceroid lipofuskinos

Svensk definition

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.

Engelsk definition

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.

Svenska synonymer

Battens sjukdom Spielmeyer-Vogts sjukdom Stengel-Batten-Spielmayer-Vogts sjukdom Ceroidlagringssjukdom Lipofuscinlagringssjukdom

Engelska synonymer

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