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JANSKY-BIELSCHOWSKY DISEASE
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DeCS
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
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS