Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation

Neurological Sciences

Volumn 37, Issue 3, 2016, Pages 459-463

  Gasparini, Sara ^a,b   Qualtieri, Antonio ^c   Ferlazzo, Edoardo ^a,b   Cianci, Vittoria ^b   Patitucci, Alessandra ^c   Spadafora, Patrizia ^c   Aguglia, Umberto ^a,b  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

^c INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

Basement membrane; COL4a1; G749S mutation; Immunofluorescence; Skin

Indexed keywords

COLLAGEN TYPE 4; COL4A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BASEMENT MEMBRANE; BLOOD VESSEL; CASE REPORT; COL4A1 GENE; CONTROLLED STUDY; FAMILY; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOREACTIVITY; MALE; MIDDLE AGED; NERVE; PEDIGREE; PORENCEPHALY; SEBACEOUS GLAND; SKIN BIOPSY; SKIN STRUCTURE; YOUNG ADULT; CONFOCAL MICROSCOPY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; INNERVATION; METABOLISM; MUTATION; PATHOLOGY; VASCULARIZATION;

ADULT; BASEMENT MEMBRANE; COLLAGEN TYPE IV; FAMILY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUTATION; PORENCEPHALY; SEBACEOUS GLANDS; YOUNG ADULT;

EID: 84961051940     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-015-2435-3     Document Type: Article

References (13)

1. Shekhonin BV, Domogatsky SP, Muzykantov VR, Idelson GL, Rukosuev VS et al (1985) Distribution of type I, III, IV and V collagen in normal and atherosclerotic human arterial wall: immunomorphological characteristics. Coll Relat Res 5:355–368
2. Mayne R (1986) Collagenous proteins of blood vessels. Arteriosclerosis 6:585–593
3. Urabe N, Naito I, Saito K, Yonezawa T, Sado Y, Yoshioka H et al (2002) Basement membrane type IV collagen molecules in the choroids plexus, pia mater and capillaries in the mouse brain. Arch Histol Cytol 65:133–143
4. Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P et al (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489–1496
5. Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I et al (2007) COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol 62:177–184
6. Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D et al (2004) Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology 62:1613–1615
7. Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC et al (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167–1171
8. Lemmens R, Maugeri Niessen HWM, Goris A, Tousseyn T, Demaerel P et al (2013) Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. Hum Mol Genet 2:391–397
9. Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A et al (2015) Two families with novel missense mutations in COL4A1: when diagnosis can be missed. J Neurol Sci 352:99–104
10. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC et al (2007) COL4A1 mutations and hereditary angiopathy with nephropathy, aneurysm and cramps (HANAC) syndrome. N Engl J Med 357:2687–2695
11. http://www.ncbi.nlm.nih.gov/books/NBK7046/#col4a1-dis.REF.sibon.2007.177. Visited on July 10th, 2015
12. Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Molec Genetics 21:R97–R110
13. Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T et al (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873–1882