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

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(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)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/05/29 23:46:43」(JST)

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Dejerine–Sottas disease, also known as Dejerine–Sottas syndrome, Dejerine–Sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy^[1] (and, hereditary motor and sensory polyneuropathy type III and Charcot–Marie–Tooth disease type 3), is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. The condition is caused by mutations in a various genes and currently has no known cure.^[2]

The disorder is named for Joseph Jules Dejerine and Jules Sottas, French neurologists who first described it.^[3]^[4]

Signs and symptoms

Onset occurs in infancy or early childhood, usually before 3 years of age. Progression is slow until the teenage years at which point it may accelerate, resulting in severe disability.

Symptoms are usually more severe and rapidly progressive than in the other more common Charcot–Marie–Tooth diseases. Some patients may never walk and solely use wheelchairs by the end of their first decade, while others may need only a cane (walking stick) or similar support through life.

Dejerine–Sottas disease is characterized by moderate to severe lower and upper extremity weakness and loss of sensation, which occur mainly in the lower legs, forearms, feet and hands. Loss of muscle mass and reduced muscle tone can occur as the disease progresses. Other symptoms may include pain in the extremities, curvature of the spine, clawed hands, foot deformities, ataxia, peripheral areflexia, and slow acquisition of motor skills in childhood. Symptoms that are less common can include limitation of eye movements, other eye problems such as nystagmus or anisocoria, or mild hearing loss.^[2]

Causes

Dejerine–Sottas neuropathy is caused by a genetic defect either in the proteins found in axons or the proteins found in myelin.^[2] Specifically, it has been associated with mutations in MPZ,^[5] PMP22,^[6] PRX,^[7] and EGR2^[8] genes. The disorder is inherited in an autosomal dominant or autosomal recessive manner.^[2]

Diagnosis

On medical imaging, the nerves of the extremities (and cranial nerves in some cases) appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct "onion-bulb" appearance. Peripheral (and possibly cranial) nerve excitability and conduction speed are reduced.

References

^ Satran, R. (1980). "Dejerine-Sottas Disease Revisited". Archives of Neurology 37 (2): 67–68. doi:10.1001/archneur.1980.00500510025002. PMID 7356409.
^ ^a ^b ^c ^d Muscular Dystrophy Association (2012). "Dejerine-Sottas Disease". Retrieved 7 May 2012.
^ synd/1736 at Who Named It?
^ Dejerine, J. J.; Sottas, J. (1893). "Sur la névrite interstitielle hypertrophique et progressive de l’enfance; affection souvent familiale et à debut infantile, caractérisée par une atrophie musculaire des extrémities, avec troubles marqués de la sensibilité et ataxie des mouvements et relevant d'une névrite interstitielle hypertrophique a marche ascendante avec lésions médullaires consécutives" (PDF). Comptes rendus des séances de la Société de biologie (Paris) 45: 63–96.
^ Hayasaka K, Himoro M, Sawaishi Y, et al. (November 1993). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)". Nat. Genet. 5 (3): 266–8. doi:10.1038/ng1193-266. PMID 7506095.
^ Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (November 1993). "Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene". Nat. Genet. 5 (3): 269–73. doi:10.1038/ng1193-269. PMID 8275092.
^ Kabzinska D, Drac H, Sherman DL, et al. (March 2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene". Neurology 66 (5): 745–7. doi:10.1212/01.wnl.0000201269.46071.35. PMID 16534116.
^ Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566.

UpToDate Contents

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1. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
2. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
3. 末梢神経腫瘍 peripheral nerve tumors

English Journal

Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.

Piscosquito G1, Reilly MM2, Schenone A3, Fabrizi GM4, Cavallaro T4, Santoro L5, Manganelli F5, Vita G6,7, Quattrone A8, Padua L9, Gemignani F10, Visioli F11,12, Laurà M2, Calabrese D1, Hughes RA2, Radice D13, Solari A1, Pareyson D1; CMT-TRIAAL and CMT-TRAUK Group.
European journal of neurology.Eur J Neurol.2015 Dec;22(12):1556-63. doi: 10.1111/ene.12783. Epub 2015 Jul 31.
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm dif
PMID 26227902

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Sevilla T1,2,3, Sivera R1, Martínez-Rubio D2,4, Lupo V2,4, Chumillas MJ5, Calpena E2,4, Dopazo J2,6, Vílchez JJ1,2,3, Palau F2,4, Espinós C2,4,7.
European journal of neurology.Eur J Neurol.2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24.
BACKGROUND AND PURPOSE: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype.METHODS: The clinical, nerve conduction studies and muscle magnetic resonance images of the pa
PMID 26204789

Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

López E1, Casasnovas C2, Giménez J3, Santamaría R4, Terrazas JM5, Volpini V3.
Journal of the neurological sciences.J Neurol Sci.2015 Nov 15;358(1-2):422-7. doi: 10.1016/j.jns.2015.08.1529. Epub 2015 Sep 8.
Spastic paraplegia type 10 (SPG10) is a rare form of autosomal dominant hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been associated with a wide clinical spectrum, ranging from pu
PMID 26403765

Japanese Journal

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

Abe Akiko,Nakamura Kazuyuki,Kato Mitsuhiro [他]
Journal of human genetics 55(11), 771-773, 2010-11
NAID 40017366161

遺伝性ニューロパチーの診断と病態

高嶋博
末梢神経 = Peripheral nerve 18(2), 145-151, 2007-12-01
NAID 10027267294

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★リンクテーブル★

リンク元	「デジェリン・ソッタ病」
関連記事	「disease」

「デジェリン・ソッタ病」

Dejerine–Sottas syndrome
Classification and external resources
Specialty	neurology
ICD-10	G60.0
ICD-9-CM	356.0
OMIM	145900
DiseasesDB	5821
MeSH	D015417
	[edit on Wikidata]

　　[★]

英: Dejerine-Sottas disease
同: デジェリン・ソッタス病デジュリーヌ・ソッタ病 Dejerine-Sottas病、肥厚性間質性神経炎肥厚性間質性ニューロパチー hypertropic interstitial neuropathy、遺伝性運動感覚性ニューロパチーIII型 hereditary motorand sensory neuropathy type III、遺伝性運動感覚性ニューロパチー hereditary motor and sensory neuropathy HMSN
関: シャルコー-マリー-トゥース病

[show details]

デジェリン病 : 1 件
デジェリーヌ病 : 4 件
ドゥジェリーヌ病 : nothing
デジェリン・ソッタス病 : 36 件
デジェリン・ソッタ病 : 47 件
デジュリーヌ・ソッタス病 : 18 件
デジュリーヌ・ソッタ病 : 13 件
ドゥジェリーヌ・ソッタス病 : nothing
ドゥジェリーヌ・ソッタ病 : 1 件

「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

[1] Satran, R. (1980). "Dejerine-Sottas Disease Revisited". Archives of Neurology 37 (2): 67–68. doi:10.1001/archneur.1980.00500510025002. PMID 7356409.

[MDA-2] Muscular Dystrophy Association (2012). "Dejerine-Sottas Disease". Retrieved 7 May 2012.

[3] synd/1736 at Who Named It?

[4] Dejerine, J. J.; Sottas, J. (1893). "Sur la névrite interstitielle hypertrophique et progressive de l’enfance; affection souvent familiale et à debut infantile, caractérisée par une atrophie musculaire des extrémities, avec troubles marqués de la sensibilité et ataxie des mouvements et relevant d'une névrite interstitielle hypertrophique a marche ascendante avec lésions médullaires consécutives" (PDF). Comptes rendus des séances de la Société de biologie (Paris) 45: 63–96.

[pmid7506095-5] Hayasaka K, Himoro M, Sawaishi Y, et al. (November 1993). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)". Nat. Genet. 5 (3): 266–8. doi:10.1038/ng1193-266. PMID 7506095.

[pmid8275092-6] Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (November 1993). "Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene". Nat. Genet. 5 (3): 269–73. doi:10.1038/ng1193-269. PMID 8275092.

[pmid16534116-7] Kabzinska D, Drac H, Sherman DL, et al. (March 2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene". Neurology 66 (5): 745–7. doi:10.1212/01.wnl.0000201269.46071.35. PMID 16534116.

[pmid11523566-8] Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566.

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案内

Dejerine-Sottas disease