Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 213-221

  Crow, Yanick J ^a   Jackson, A P ^a   Roberts, E ^a   Van Beusekom, E ^d   Barth, P ⁿ   Corry, P ^e   Ferrie, C D ^c   Hamel, B C J ^d   Jayatunga, R ^f   Karbani, G ^b   Kalmanchey R ^g   Kelemen, A ^g   King, M ^h   Kumar, R ⁱ   Livingstone, J ^c   Massey, R ^j   McWilliam, R ^k   Meager, A ^l   Rittey, C ⁱ   Stephenson, J B P ^k   Tolmie, J L ^k   Verrips, A ^d   Voit, T ^m   Van Bokhoven, H ^d   Brunner, H G ^d   Woods, C G ^a,b   more..

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ST LUKE S HOSPITAL   (United Kingdom)

^f SANDWELL GENERAL HOSPITAL   (United Kingdom)

^g SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^h Children's University Hospital   (Ireland)

ⁱ SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^j HULL ROYAL INFIRMARY   (United Kingdom)

^k ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^l NATIONAL INSTITUTE FOR BIOLOGICAL STANDARDS AND CONTROL   (United Kingdom)

^m UNIVERSITY OF DUISBURG ESSEN   (Germany)

ⁿ NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON;

AICARDI GOUTIERES SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN DISEASE; CALCIFICATION; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHROMOSOME 3P; CLINICAL ARTICLE; CYTOMEGALOVIRUS; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME; HEAD CIRCUMFERENCE; HERPES SIMPLEX VIRUS; HUMAN; LEUKOCYTE COUNT; LYMPHOCYTOSIS; MULTIGENE FAMILY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROBABILITY; RUBELLA; TOXOPLASMOSIS; BIOLOGICAL MODEL; CHROMOSOME 3; CHROMOSOME MAP; CHRONIC BRAIN DISEASE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETIC MARKER; GENETICS; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; ONSET AGE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; SYNDROME;

CYTOMEGALOVIRUS; HERPES; SIMPLEXVIRUS;

ABNORMALITIES, MULTIPLE; AGE OF ONSET; BRAIN DAMAGE, CHRONIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC HETEROGENEITY; GENETIC MARKERS; HUMANS; INFANT; INFANT, NEWBORN; LOD SCORE; MALE; MODELS, GENETIC; PEDIGREE; SYNDROME;

EID: 0033625515     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302955     Document Type: Article

References (37)

1. Aicardi J, Goutières F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49-54
2. Akwa Y, Hassett DE, Eloranta ML, Sandberg K, Masliah E, Powell H, Whitton JL, et al (1998) Transgenic expression of IFN-α in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol 161:5016-5026
3. al-Dabbous R, Sabry MA, Farah S, al-Awadi SA, Simeonov S, Farag TI (1998) The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family. Clin Dysmorphol 7:127-130
4. Bachmeyer C, Farge D, Gluckman E, Miclea JM, Aractingi S (1996) Raynaud's phenomenon and digital necrosis induced by interferon-alpha. Br J Dermatol 135:481-483
5. Baraitser M, Brett EM, Piesowicz AT (1983) Microcephaly and intracranial calcification in two brothers. J Med Genet 20: 210-212
6. Barth PG, Walter A, van Gelderen I (1999) Aicardi-Goutières syndrome: a genetic microangiopathy? Acta Neuropathol 98:212-216
7. Bolthauser E, Steinlin M, Boesch C, Martin E, Schubiger G (1991) Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy. Neuropediatrics 22:33-35
8. Bönnemann CG, Meinecke P (1992) Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutières syndrome. Neuropediatrics 23:157-161
9. Burn J, Wickramasinghe HT, Harding B, Baraitser M (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 30:112-116
10. Campbell IL, Krucker T, Steffensen S, Akwa Y, Powell HC, Lane T, Carr DJ, et al (1999) Structural and functional neuropathology in transgenic mice with CNS expression of IFN-α. Brain Res 835:46-61
11. 2a. Dermatology 196:361-363
12. Cid MC, Hernândez-Rodriguez J, Robert J, del Río A, Casademont J, Coll-Vinent B, Grau JM, et al (1999) Interferon-α may exacerbate cryoglobulinemia-related ischaemic manifestations: an adverse effect potentially related to its anti-angiogenic activity. Arthritis Rheum 42:1051-1055
13. Creutzig A, Freund M (1996) Severe Raynaud's syndrome associated with interferon therapy: a case history. Angiology 47:185-187
14. Diament AJ, Machado LR, Cypel S, Ramos JLA (1986) Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case. Arq Neuropsiquiatr 44:185-190
15. Fauré S, Bordelais I, Marquette C, Rittey C, Campos-Castello J, Goutières F, Ponsot G, et al (1999) Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? Clin Genet 56:149-153
16. Foster GR, Finter NB (1998) Are all type I human interferons equivalent? J Viral Hepat 5:143-152
17. Giroud M, Gouyon JB, Chaumet F, Cinquin AM, Chevalier-Nivelon A, Alison M, Dumas R (1986) A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Childs Nerv Syst 2:47-48
18. Goutières F (2000) Aicardi-Goutières syndrome: neurobase 2000, 1st ed. Arbor Publishing, San Diego
19. Goutières F, Aicardi J, Barth PG, Lebon P (1998) Aicardi-Goutières syndrome: an update and results of interferon-α studies. Ann Neurol 44:900-907
20. Ishitsu T, Chikazawa S, Matsuda I (1985) Two siblings with microcephaly associated with calcification of cerebral white matter. Jinrui Idengaku Zasshi 30:213-217
21. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
22. Kumar D, Rittey C, Cameron AH, Variend S (1998) Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières. Am J Med Genet 75:508-515
23. Lathrop GM, Lalouel J-M, Julier C, Ott J (1984) Strategies for multilocus analysis in humans. Proc Nad Acad Sci USA 81:3443-3446
24. Lebon P, Badoual J, Ponsot G, Goutières F, Hémeury-Cukier F, Aicardi J (1988) Intrathecal synthesis of interferon-α in infants with progressive familial encephalopathy. J Neurol Sci 84:201-208
25. McEntagart M, Kamel H, Lebon P, King MD (1998) Aicardi-Goutières syndrome: an expanding phenotype. Neuropediatrics 29:163-167
26. Mehta L, Trounce JQ, Moore JR, Young ID (1986) Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 23:157-160
27. Monastiri K, Salem N, Korbi S, Snoussi N (1997) Microcephaly and intracranial calcification: two new cases. Clin Genet 51:142-143
28. Morton NE (1956) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 8:80-96
29. O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
30. Østergaard JR, Christensen T, Nehen AM (1999) A distinct difference in clinical expression of two siblings with Aicardi-Goutières syndrome. Neuropediatrics 30:38-41
31. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
32. Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, Stevenson R, et al (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 52:58-65
33. Schindler C (1999) Cytokines and JAK-STAT signalling. Exp Cell Res 253:7-14
34. Stephenson JBP, Tolmie J, Heckmatt J, Tang S, Tatnall F, Lebon P (1997) Aicardi-Goutières syndrome: autoimmune clues to diagnosis and pathogenesis, and link to microcephaly intracranial calcification syndrome. Dev Med Child Neurol 39 (Suppl 77), paper 15
35. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore
36. Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JBP (1995) The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 32: 881-884
37. Verrips A, Hiel JAP, Gabreëls FJ, Wesseling P, Rotteveel JJ (1997) The Aicardi-Goutières syndrome: variable clinical expression in two siblings. Pediatr Neurol 16:323-325