loading...| Preferred Name | Neuronal Ceroid Lipofuscinosis | |
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| Definitions |
* 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 (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12831 |
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| birnlexDefinition |
* 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 (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page). |
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| createdDate |
2008-01-18 |
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| definingCitationURI | ||
| 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 (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page). |
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| label |
Neuronal Ceroid Lipofuscinosis |
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| MeshUid |
D009472 |
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| modifiedDate |
April 27, 2010 |
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| note |
* 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 (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page). |
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| preferred label |
Neuronal Ceroid Lipofuscinosis |
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| putativeClassExtension |
Adult Neuronal Ceroid Lipofuscinosis Santavuori-Haltia Disease Jansky-Bielschowsky Disease Kufs Disease Juvenile Cerebroretinal Degeneration |
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| synonym |
Batten Batten Disease Batten-Spielmeyer-Vogt Disease Battens Disease Batten-Mayou Disease Batten's Disease Spielmeyer-Vogt Disease |
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| UmlsCui |
C0751383 |
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| usageNote |
The MeSH term includes implied subtypes related to developmental stage at time of diagnosis: Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid Lipofuscinosis, and Adult Neuronal Ceroid Lipofuscinosis MeSH includes several implied subtypes based primarily on causation |
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