alexander disease

WordNet

1. an impairment of health or a condition of abnormal functioning
2. European herb somewhat resembling celery widely naturalized in Britain coastal regions and often cultivated as a potherb (同)Alexanders, black lovage, horse parsley, Smyrnium olusatrum
3. king of Macedon; conqueror of Greece and Egypt and Persia; founder of Alexandria (356-323 BC) (同)Alexander_the_Great
4. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/04 01:05:32」(JST)

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Alexander disease
Brain of a 4-year-old boy with Alexander disease showing macroencephaly and periventricular leukomalacia (note brownish discoloration around the cerebral ventricles)
Classification and external resources
ICD-10	E75.2
ICD-9	331.89
OMIM	203450 137780 137780 203450
MeSH	D038261
GeneReviews	Alexander disease

Alexander disease, also known as fibrinoid leukodystrophy, is a progressive and fatal neurodegenerative disease. It is a rare genetic disorder and mostly affects infants and children, causing developmental delay and changes in physical characteristics.

Cause

Alexander disease is a genetic disorder affecting the midbrain and cerebellum of the central nervous system. 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, such that the child of a parent with the disease has a 50% chance of inheriting the condition, if the parent is heterozygotic. However, most cases arise de novo as the result of sporadic mutations.

Alexander disease belongs to leukodystrophies, a group of diseases that affect the 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.Rosenthal fibers appear not to be present in healthy people, but occur in specific diseases, like some forms of cancer. The Rosenthal fibers found in Alexander disease do not share the distribution or concentration of other diseases and disorders.

Clinical features

Delays in development of some physical, psychological and behavioral skills; progressive enlargement of the head (macrocephaly), seizures, spasticity, in some cases also hydrocephalus, idiopathic intracranial hypertension, dementia.

Pathology

Alexander disease causes the gradual loss of bodily functions and the ability to talk. It also causes an overload of long chain fatty acids in the brain which the destroy the myelin sheath. The cause of Alexander disease is a mutation in the gene encoding glial fibrillary acidic protein.

A CT scan shows:

• decreased density of white matter
• frontal lobe predominance
• +/- dilated lateral ventricles

Diagnosis

It is possible to detect the signs of Alexander disease with magnetic resonance imaging (MRI), which looks for specific changes in the brain that may be tell-tale signs for the disease. It is even possible to detect adult-onset Alexander disease with MRI. Alexander disease may also be revealed by genetic testing for the known cause of Alexander disease. A rough diagnosis may also be made through revealing of clinical symptoms including, enlarged head size, along with radiological studies, and negative tests for other leukodystrophies.

Occurrence and prevalence

Its occurrence is very rare. The infantile form from birth to 2 years of age. The average duration of the infantile form of the illness is usually about 3 years. Onset of the juvenile form presents between two and twelve years of age. Duration of this form is in most cases about 6 years. The adult form from twelve years and older. 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.

There are no more than 500 reported cases.

Treatment

There is currently no cure, or standard procedure taken for treatment. A bone marrow transplant has been attempted on a child, but did not cause the patient's condition to improve.

Prognosis

The prognosis is generally poor. With early onset, death usually occurs within 10 years from the onset of symptoms. Usually, the later the disease occurs, the slower its course is.

See also

• The Myelin Project
• The Stennis Foundation

References

External links

• OMIM entries on Alexander disease

UpToDate Contents

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• 1. アレキサンダー病 alexander disease
• 2. 消失性白質疾患（Vanishing white matter disease） vanishing white matter disease
• 3. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
• 4. 腰痛の運動療法 exercise based therapy for low back pain
• 5. アスパルトアシラーゼ欠乏症（カナバン病） aspartoacylase deficiency canavan disease

English Journal

• PMID 26005764

• Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation.

• Sugiyama A1, Sawai S2, Ito S3, Mukai H4, Beppu M2, Yoshida T5, Kuwabara S2.
• Journal of the neurological sciences.J Neurol Sci.2015 Jul 15;354(1-2):131-2. doi: 10.1016/j.jns.2015.05.001. Epub 2015 May 8.
• PMID 25982497

• The endocannabinoid system is altered in the post-mortem prefrontal cortex of alcoholic subjects.

• Erdozain AM1,2, Rubio M3, Valdizan EM2,4, Pazos A2,4, Meana JJ1,2,5, Fernández-Ruiz J3,6,7, Alexander SP8, Callado LF1,2,5.
• Addiction biology.Addict Biol.2015 Jul;20(4):773-83. doi: 10.1111/adb.12160. Epub 2014 Jul 8.
• There is strong biochemical, pharmacological and genetic evidence for the involvement of the endocannabinoid system (ECS) in alcohol dependence. However, the majority of studies have been performed in animal models. The aim of the present study was to assess the state of the CB1 receptor, the enzyme
• PMID 25041461

Japanese Journal

• 非アルコール性脂肪性肝疾患における炎症の進展--Multiple Parallel Hits(多重並行ヒット)仮説

• Tilg Herbert,Moschen Alexander R.
• Hepatology 6(1), 2-14, 2011-04
• NAID 40018998700

Related Links

• Alexander disease - Genetics Home Reference

Consumer-friendly information about human genetics from the U.S. National Library of Medicine. ... Gene Review: Gene Review: Alexander Disease Gorospe JR, Maletkovic J. Alexander disease and megalencephalic ...

• Alexander Disease - GeneReviews® - NCBI Bookshelf

Alexander disease is a progressive disorder of cerebral white matter that predominantly affects infants and children and has variable life expectancy. The later-onset forms present with a slower clinical course. The infantile form ...

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関連記事

「disease」

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder