WordNet

an impairment of health or a condition of abnormal functioning
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

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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/25 15:28:49」(JST)

wiki en

Alpers' disease, also called Alpers' syndrome,^[1] progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder meaning two copies of the defective gene is required for active disease, a single copy conveys carrier status. Alpers' disease is caused by certain genetic mutations in the POLG gene.

Presentation

Alpers' formal name is Alpers-Huttenlocher syndrome (AHS). It was first recognized by Alfons Maria Jakob, a German neuropathologist. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. Alpers' disease is caused by an underlying mitochondrial metabolic defect of POLG,.^[2] Pathologically, there is status spongiosus of the cerebral grey matter.

Treatment

There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

Prognosis

The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.

Eponym

It is named after Bernard Jacob Alpers^[3]^[4] and Peter Huttenlocher.^[5]

References

^ Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study" Journal of Neurology Neurosurgery and Psychiatry, 2004;75:910-913. (Fee for full text.) Retrieved on 2007-09-27.
^ Davidzon, G.; Mancuso, M.; Ferraris, S.; Quinzii, C.; Hirano, M.; Peters, H. L.; Kirby, D.; Thorburn, D. R.; DiMauro, S. : POLG mutations and Alpers syndrome. Ann. Neurol. 57: 921-924, 2005.
^ Bernard Jacob Alpers at Who Named It?
^ Alpers' disease at Who Named It?
^ Easton, John (19 August 2013). "Peter Huttenlocher, pediatric neurologist, 1931-2013". The University of Chicago. Retrieved 1 November 2013.

External links

"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.
"Non-Profit Organization". (Website). Dedicated to research and education for mitochondrial diseases
"The Nicholas Appeal" (Website). Non-charitable trust

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 小児における痙攣およびてんかん症候群の治療の概要 overview of the treatment of seizures and epileptic syndromes in children
2. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
3. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults
4. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
5. バルプロ酸中毒 valproic acid poisoning

English Journal

Clinical and Molecular Features of POLG-Related Mitochondrial Disease.

Stumpf JD, Saneto RP, Copeland WC.SourceLaboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Cold Spring Harbor perspectives in biology.Cold Spring Harb Perspect Biol.2013 Apr 1;5(4). pii: a011395. doi: 10.1101/cshperspect.a011395.
The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol γ) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) diso
PMID 23545419

Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.

Sohl CD, Kasiviswanathan R, Copeland WC, Anderson KS.SourceDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA.
Human molecular genetics.Hum Mol Genet.2013 Mar 15;22(6):1074-85. doi: 10.1093/hmg/dds509. Epub 2012 Dec 3.
Human mitochondrial DNA polymerase γ (pol γ) is solely responsible for the replication and repair of the mitochondrial genome. Unsurprisingly, alterations in pol γ activity have been associated with mitochondrial diseases such as Alpers syndrome and progressive external ophthalmoplegia. Thus far,
PMID 23208208

Increased Ribonuclease Expression Reduces Inflammation and Prolongs Survival in TLR7 Transgenic Mice.

Sun X, Wiedeman A, Agrawal N, Teal TH, Tanaka L, Hudkins KL, Alpers CE, Bolland S, Buechler MB, Hamerman JA, Ledbetter JA, Liggitt D, Elkon KB.SourceDepartment of Medicine, University of Washington, Seattle, WA 98195;
Journal of immunology (Baltimore, Md. : 1950).J Immunol.2013 Mar 15;190(6):2536-43. doi: 10.4049/jimmunol.1202689. Epub 2013 Feb 4.
TLR7 activation is implicated in the pathogenesis of systemic lupus erythematosus. Mice that overexpress TLR7 develop a lupus-like disease with autoantibodies and glomerulonephritis and early death. To determine whether degradation of the TLR7 ligand RNA would alter the course of disease, we created
PMID 23382559

Japanese Journal

臨床的にAlpers症候群と診断し、ミトコンドリア呼吸鎖異常症が確認された1剖検例

松丸重人,舟塚真,中務秀嗣 [他],塩田睦記,平野嘉子,石垣景子,宇都健太,大澤眞木子
東京女子医科大学雑誌 83(E1), E301-E306, 2013-01-31
… Alpers症候群は、予後不良の進行性神経変性疾患で、原因疾患のひとつにミトコンドリア異常症がある。 … 臨床症状からAlpers症候群が疑われ、血液、髄液、MRS検査で乳酸値の上昇は認められなかったが、剖検での肝臓検体の検索により、ミトコンドリア呼吸鎖異常症が確認された1例を経験したので報告する。 …
NAID 110009559386

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease

UUSIMAA J
Pediatrics 111, e262-e268, 2003
NAID 30012916714

Case report : progressive neuronal degeneration (Alpers-Huttenlocher disease)-seizure free on Topamax add-on therapy

MEJASKI-BOSNJAK V
Brain Dev. 24, 500-501, 2002
NAID 50000635298

「アルパース病」

Alpers' disease
	Classification and external resources
ICD-10	G31.8
ICD-9	330.8
OMIM	203700
DiseasesDB	29298
MeSH	D002549

　　[★]

英: Alpers' disease, Alpers disease, progressive cerebral poliodystrophy
ラ: polio dystrophia cerebri progressiva infantilis
同: アルパース進行性大脳皮質萎縮症、乳児進行性脳灰白質ジストロフィー、Alpers病アルパーズ病、Alpers-Huttenlocher症候群 Alpers-Huttenlocher syndrome Alpers's Huttenlocher syndrome

概念

乳児期より原因不明の痙攣発作、運動機能や精神機能の退行を来す退行性疾患。
初めは筋緊張低下から次第に進行する筋緊張亢進を呈する
小児期に死亡する。
病院は明らかではない。

病因

POLG遺伝子の変異 (1)

疫学

遺伝形式

常染色体劣性遺伝

症状

神経症状：精神運動発達遅滞(知能障害)、退行、ミオクローヌス、痙攣発作、痙性麻痺、視力低下、難聴
肝障害

診断

検査

治療

予後

発症後3-4年以内に死亡

予防

参考

1. wikipedia - en

http://en.wikipedia.org/wiki/Alpers%27_disease

2. wrongdiagnosis.com

http://www.wrongdiagnosis.com/a/alpers_syndrome

「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

[naude2004-1] Naudé, J te Water, C M Verity, R G Will, G Devereux, and L Stellitano. (2004.) "Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers’ syndrome? An analysis of a national surveillance study" Journal of Neurology Neurosurgery and Psychiatry, 2004;75:910-913. (Fee for full text.) Retrieved on 2007-09-27.

[davidzon_2005-2] Davidzon, G.; Mancuso, M.; Ferraris, S.; Quinzii, C.; Hirano, M.; Peters, H. L.; Kirby, D.; Thorburn, D. R.; DiMauro, S. : POLG mutations and Alpers syndrome. Ann. Neurol. 57: 921-924, 2005.

[3] Bernard Jacob Alpers at Who Named It?

[4] Alpers' disease at Who Named It?

[uch-5] Easton, John (19 August 2013). "Peter Huttenlocher, pediatric neurologist, 1931-2013". The University of Chicago. Retrieved 1 November 2013.

匿名

検索

案内

案内

Alpers disease