Alexander disease: Difference between revisions
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'''''Synonyms and keywords:''''' [[Dysmyelogenic leukodystrophy]], [[Dysmyelogenic leukodystrophy-megalobare]], [[Fibrinoid degeneration of astrocytes]], [[Fibrinoid leukodystrophy]], [[Hyaline panneuropathy]], [[Leukodystrophy with Rosenthal fibers]], [[Megalencephaly with hyaline inclusion]], [[Megalencephaly with hyaline panneuropathy]] | |||
{{DiseaseDisorder infobox | | {{DiseaseDisorder infobox | | ||
Name = Alexander disease | | Name = Alexander disease | | ||
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OMIM = 203450 | | OMIM = 203450 | | ||
}} | }} | ||
==Overview== | |||
'''Alexander disease''' is a slowly progressing and fatal [[neurodegenerative disease]]. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics. | |||
==Historical Perspective== | |||
== | ==Classification== | ||
==Pathophysiology== | ==Pathophysiology== | ||
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Alexander disease belongs to [[leukodystrophies]], a group of diseases which affect growth or development of the [[myelin sheath]]. The destruction of [[white matter]] in the [[brain]] is accompanied by the formation of fibrous, eosinophilic deposits known as [[Rosenthal fibers]]. | Alexander disease belongs to [[leukodystrophies]], a group of diseases which affect growth or development of the [[myelin sheath]]. The destruction of [[white matter]] in the [[brain]] is accompanied by the formation of fibrous, eosinophilic deposits known as [[Rosenthal fibers]]. | ||
===Genetics=== | ===Genetics=== | ||
Alexander disease is a genetic disorder affecting the central nervous system ([[midbrain]] and [[cerebellum]]). It is caused by mutations in the [[gene]] for glial fibrillary acidic protein ([[GFAP]]) that maps to [[Chromosome 17 (human)|chromosome 17]]q21. It is inherited in an [[autosomal dominant]] manner. | |||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
This is a very rare with no more than 300 cases reported. The infantile form (80% of all cases) starts usually at the age of six months or within the first two years. The average duration of the infantile form of the illness is usually about 3 years. Onset of the juvenile form (14% of all cases) presents usually between four to ten years of age. Duration of this form is in most cases about 8 years. In younger patients, seizures, megalencephaly, developmental delay, and spasticity are usually present. Neonatal onset is also reported. Onset in adults is least frequent. In older patients, bulbar or pseudobulbar symptoms and spasticity predominate. Symptoms of the adult form may also resemble [[multiple sclerosis]]. | This is a very rare with no more than 300 cases reported. The infantile form (80% of all cases) starts usually at the age of six months or within the first two years. The average duration of the infantile form of the illness is usually about 3 years. Onset of the juvenile form (14% of all cases) presents usually between four to ten years of age. Duration of this form is in most cases about 8 years. In younger patients, seizures, megalencephaly, developmental delay, and spasticity are usually present. Neonatal onset is also reported. Onset in adults is least frequent. In older patients, bulbar or pseudobulbar symptoms and spasticity predominate. Symptoms of the adult form may also resemble [[multiple sclerosis]]. | ||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Diagnostic Criteria=== | ||
===History and Symptoms=== | |||
* Delays in development of some physical, psychological and behavioral skills | * Delays in development of some physical, psychological and behavioral skills | ||
* Progressive enlargement of the head ([[macrocephaly]]) | * Progressive enlargement of the head ([[macrocephaly]]) | ||
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* [[Dementia]] | * [[Dementia]] | ||
* Clumsy movements. | * Clumsy movements. | ||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===CT Findings=== | ===CT Findings=== | ||
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* Frontal lobe predominance | * Frontal lobe predominance | ||
* +/- Dilated lateral ventricles | * +/- Dilated lateral ventricles | ||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | ==Treatment== | ||
There is neither cure nor standard treatment for Alexander disease. All treatment is symptomatic and supportive, for example [[antibiotic]]s for intercurrent infection and [[anticonvulsant]]s for seizure control are usually used. | There is neither cure nor standard treatment for Alexander disease. All treatment is symptomatic and supportive, for example [[antibiotic]]s for intercurrent infection and [[anticonvulsant]]s for seizure control are usually used. | ||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==See also== | ==See also== | ||
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*[http://www.stennisfoundation.org The Stennis Foundation - Registered charity committed to raising awareness and funds for Leukodystrophies research] | *[http://www.stennisfoundation.org The Stennis Foundation - Registered charity committed to raising awareness and funds for Leukodystrophies research] | ||
*[http://www.myspace.com/stennisfoundation The Stennis Foundation's MySpace site] | *[http://www.myspace.com/stennisfoundation The Stennis Foundation's MySpace site] | ||
==References== | |||
{{reflist|2}} | |||
[[de:Alexander-Krankheit]] | [[de:Alexander-Krankheit]] | ||
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[[fi:Aleksanterin tauti]] | [[fi:Aleksanterin tauti]] | ||
[[Category: | [[Category:Neurology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
{{ | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 15:25, 2 August 2016
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WikiDoc Resources for Alexander disease |
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Articles |
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Most recent articles on Alexander disease Most cited articles on Alexander disease |
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Media |
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Powerpoint slides on Alexander disease |
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Evidence Based Medicine |
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Cochrane Collaboration on Alexander disease |
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Clinical Trials |
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Ongoing Trials on Alexander disease at Clinical Trials.gov Trial results on Alexander disease Clinical Trials on Alexander disease at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on Alexander disease NICE Guidance on Alexander disease
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Patient resources on Alexander disease Discussion groups on Alexander disease Patient Handouts on Alexander disease Directions to Hospitals Treating Alexander disease Risk calculators and risk factors for Alexander disease
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Healthcare Provider Resources |
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Causes & Risk Factors for Alexander disease |
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Continuing Medical Education (CME) |
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Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Synonyms and keywords: Dysmyelogenic leukodystrophy, Dysmyelogenic leukodystrophy-megalobare, Fibrinoid degeneration of astrocytes, Fibrinoid leukodystrophy, Hyaline panneuropathy, Leukodystrophy with Rosenthal fibers, Megalencephaly with hyaline inclusion, Megalencephaly with hyaline panneuropathy
Template:DiseaseDisorder infobox
Overview
Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics.
Historical Perspective
Classification
Pathophysiology
The cause of Alexander disease is a mutation in the gene encoding glial fibrillary acidic protein.
Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath. The destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers.
Genetics
Alexander disease is a genetic disorder affecting the central nervous system (midbrain and cerebellum). It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21. It is inherited in an autosomal dominant manner.
Causes
Differentiating Alexander disease from Other Diseases
Epidemiology and Demographics
This is a very rare with no more than 300 cases reported. The infantile form (80% of all cases) starts usually at the age of six months or within the first two years. The average duration of the infantile form of the illness is usually about 3 years. Onset of the juvenile form (14% of all cases) presents usually between four to ten years of age. Duration of this form is in most cases about 8 years. In younger patients, seizures, megalencephaly, developmental delay, and spasticity are usually present. Neonatal onset is also reported. Onset in adults is least frequent. In older patients, bulbar or pseudobulbar symptoms and spasticity predominate. Symptoms of the adult form may also resemble multiple sclerosis.
Risk Factors
Screening
Natural History, Complications and Prognosis
The prognosis is generally poor. With early onset, death usually occurs within 10 years after the onset of symptoms. Usually, the later the disease occurs, the slower its course is.
Diagnosis
Diagnostic Criteria
History and Symptoms
- Delays in development of some physical, psychological and behavioral skills
- Progressive enlargement of the head (macrocephaly)
- Seizures
- Spasticity
- Hydrocephalus
- Dementia
- Clumsy movements.
Physical Examination
Laboratory Findings
CT Findings
- Decreased density of white matter
- Frontal lobe predominance
- +/- Dilated lateral ventricles
Imaging Findings
Other Diagnostic Studies
Treatment
There is neither cure nor standard treatment for Alexander disease. All treatment is symptomatic and supportive, for example antibiotics for intercurrent infection and anticonvulsants for seizure control are usually used.
Medical Therapy
Surgery
Prevention
See also
External links
- alexander at NIH/UW GeneTests
- The Stennis Foundation - Registered charity committed to raising awareness and funds for Leukodystrophies research
- The Stennis Foundation's MySpace site