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NEURONAL CEROID-LIPOFUSCINOSES
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DeCS
Descriptor
English
:
Neuronal Ceroid-Lipofuscinoses
Descriptor
Spanish
:
Lipofuscinosis Ceroideas Neuronales
Descriptor
Portuguese
:
Lipofuscinoses Ceróides 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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
9664
Unique Identifier:
D009472
Occurrence in VHL
:
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