Search on: KUFS DISEASE 
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Descriptor English:   Neuronal Ceroid-Lipofuscinoses 
Descriptor Spanish:   Lipofuscinosis Ceroideas Neuronales 
Descriptor Portuguese:   Lipofuscinoses Ceroides Neuronais 
Synonyms English:   Batten Disease
Ceroid-Lipofuscinosis, Neuronal
Jansky-Bielschowsky Disease
Kufs Disease
Santavuori-Haltia Disease
Spielmeyer-Vogt Disease  
Tree Number:   C10.574.500.550
C16.320.400.600
C16.320.565.398.641.509
C18.452.584.687.509
C18.452.648.398.641.509
Definition English:   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. 
History Note English:   2007 (1983) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   9664 
Unique Identifier:   D009472 

Occurrence in VHL: 		 

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