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Aicardi-Goutières-Syndrom 1

Aicardi-Goutières-Syndrom 1 ist eine autosomal dominant oder rezessive Erkrankung, die durch Mutationen des TREX1-Gen hervorgerufen wird. Das Aicardi-Goutières-Syndrom ist charakterisiert durch eine subakute Enzephalopathie. Leukodystrophie und einer Lyphozytose der Zerebrospinalflüssigkeit. Meist zeigen sich die Zeichen der zerebralen Degeneration bereits früh nach der Geburt, aber auch mildere Verläufe mit normaler kognitiver Entwicklung sind beschrieben.

Epidemiologie

Die Prävalenz aller Typen des Aicardi-Goutières-Syndroms liegt 1-5:10.000.

Gliederung

Aicardi-Goutières-Syndrom
Aicardi-Goutières-Syndrom 1
TREX1
Aicardi-Goutières-Syndrom 2
Aicardi-Goutières-Syndrom 3
Aicardi-Goutières-Syndrom 4
Aicardi-Goutières-Syndrom 5
Aicardi-Goutières-Syndrom 6
Aicardi-Goutières-Syndrom 7

Referenzen:

1.

Crow YJ et al. (2006) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

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2.

Crow YJ et al. (2009) Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

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3.

None (2008) Aicardi-Goutières syndrome (AGS).

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4.

Lanzi G et al. (2005) The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

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5.

Crow YJ et al. (2004) Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

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6.

Crow YJ et al. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

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7.

Dale RC et al. (2000) Familial systemic lupus erythematosus and congenital infection-like syndrome.

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8.

Aicardi J et al. (2000) Systemic lupus erythematosus or Aicardi-Goutières syndrome?

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9.

Crow YJ et al. (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

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10.

Goutières F et al. (1998) Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

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11.

Akwa Y et al. (1998) Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

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12.

McEntagart M et al. (1998) Aicardi-Goutières syndrome: an expanding phenotype.

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13.

Kumar D et al. (1998) Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.

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14.

Raymond AA et al. (1996) Brain calcification in patients with cerebral lupus.

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15.

Tolmie JL et al. (1995) The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

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16.

Aicardi J et al. (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

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17.

Babbitt DP et al. (1969) Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children.

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18.

Giroud M et al. (1986) A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

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19.

Mehta L et al. (1986) Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

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20.

Black DN et al. (1988) Encephalitis among Cree children in northern Quebec.

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21.

Ali M et al. (2006) A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

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22.

Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

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23.

Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

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24.

Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

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25.

Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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26.

Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

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27.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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28.

Wikipedia Artikel

Wikipedia DE (Aicardi-Goutières-Syndrom) external link
Update: 14. August 2020
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