Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

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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13.

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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14.

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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15.

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

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16.

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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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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

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25.

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

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26.

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

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27.

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

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28.

Wikipedia Artikel

Wikipedia DE (Aicardi-Goutières-Syndrom) [^]
Update: 17. Oktober 2019