Brain involvement in Alström syndrome

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Citton, Valentina ^a   Favaro, Angela ^b   Bettini, Vera ^c   Gabrieli, Joseph ^c   Milan, Gabriella ^c   Greggio, Nella Augusta ^c   Marshall, Jan D ^d   Naggert, Jürgen K ^e   Manara, Renzo ^e   Maffei, Pietro ^c  

^a VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^d JACKSON LABORATORY   (United States)

^e UNIVERSITY OF SALERNO   (Italy)

Author keywords

Alstr m syndrome; DTI; MRI; VBM

Indexed keywords

ADOLESCENT; ADULT; ALSTROM SYNDROME; ANGULAR GYRUS; ARTICLE; BRAIN ATROPHY; BRAIN DAMAGE; BRAIN DISEASE; BRAIN FORNIX; BRAIN MALFORMATION; BRAIN REGION; BRAIN SIZE; BRAIN VENTRICLE DILATATION; CEREBELLUM; CHILD; CINGULATE GYRUS; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; FEMALE; FRACTIONAL ANISOTROPY; GRAY MATTER; HUMAN; MALE; MIDDLE TEMPORAL GYRUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL GYRUS; PERIVENTRICULAR WHITE MATTER ABNORMALITY; PRESCHOOL CHILD; SCHOOL CHILD; SUPERIOR FRONTAL GYRUS; VOXEL BASED MORPHOMETRY; WHITE MATTER;

ADOLESCENT; ADULT; AGED; ALSTROM SYNDROME; BRAIN; CHILD; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 84874590653     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-24     Document Type: Article

References (32)

1. Alström Syndrome. Marshall JD, Beck S, Maffei P, Naggert JK, Eur J Hum Genet 2007 15 1193 1202 10.1038/sj.ejhg.5201933 17940554 (Pubitemid 350143174)
2. Alström syndrome: genetics and clinical overview. Marshall JD, Maffei P, Collin GB, Naggert JK, Curr Genomics 2011 12 3 225 235 10.2174/138920211795677912 22043170
3. Spectrum of ALMS1 variants and evaluation of genotypephenotype correlations in Alström syndrome. Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK, Hum Mutat 2007 28 11 1114 1123 10.1002/humu.20577 17594715 (Pubitemid 350036916)
4. The assessment and analysis of handedness: the Edinburgh inventory. Oldfield RC, Neuropsychologia 1971 9 97 113 10.1016/0028-3932(71)90067-4 5146491
5. An automated method for neuroanatomic and cytoarchitectonic Atlas-based interrogation of FMRI data sets. Maldjian JA, Laurienti PJ, Kraft RA, Burdette JH, NeuroImage 2003 19 1233 1239 10.1016/S1053-8119(03)00169-1 12880848 (Pubitemid 36918259)
6. Voxel-based morphometry-the methods. Ashburner J, Friston KJ, NeuroImage 2000 11 805 821 10.1006/nimg.2000.0582 10860804 (Pubitemid 30437668)
7. Threshold-free cluster enhancement: addressing problems of smoothing, threshold dependence and localisation in cluster inference. Smith SM, Nichols TE, NeuroImage 2009 44 83 98 10.1016/j.neuroimage.2008.03.061 18501637
8. Alström syndrome associated with cerebral involvement: an unusual presentation. Yilmaz C, Çaksen H, Yilmaz N, Güven AS, Arslan D, Cesur Y, European J General Med 2006 3 32 34 (Pubitemid 46785521)
9. Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex. Bridge H, Cowey A, Ragge N, Watkins K, Brain 2009 132 Pt 12 3467 3480 19892766
10. Progressive atrophy in the optic pathway and visual cortex of early blind Chinese adults: A voxel-based morphometry magnetic resonance imaging study. Pan WJ, Wu G, Li CX, Lin F, Sun J, Lei H, NeuroImage 2007 37 1 212 220 10.1016/j.neuroimage.2007.05.014 17560797 (Pubitemid 47069000)
11. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T, Am J Med Genet A 2011 155A 1 1 8 21204204
12. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. Bennouna-Greene V, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder-Espinasse M, Godet J, Brandt C, Marion V, Danion A, Dietemann JL, Dollfus H, Clin Genet 2011 80 6 523 531 10.1111/j.1399-0004.2011.01688.x 21517826
13. Prevalence of white matter hyperintensities in a young healthy population. Hopkins RO, Beck CJ, Burnett DL, Weaver LK, Victoroff J, Bigler ED, J Neuroimaging 2006 16 3 243 251 10.1111/j.1552-6569.2006.00047.x 16808826 (Pubitemid 44933492)
14. Bilateral intracranial vertebral artery disease in the New England Medical Center, Posterior Circulation Registry. Shin HK, Yoo KM, Chang HM, Caplan LR, Arch Neurol 1999 56 11 1353 1358 10.1001/archneur.56.11.1353 10555655 (Pubitemid 29519851)
15. Deciphering the endothelial shear stress sensor. Poelmann RE, Van der Heiden K, Gittenberger-de Groot A, Hierck BP, Circulation 2008 117 9 1124 1126 10.1161/CIRCULATIONAHA.107.753889 18316496 (Pubitemid 351544055)
16. Magnetic resonance imaging changes in Fabry disease. Ginsberg L, Manara R, Valentine AR, Kendall B, Burlina AP, Acta Paediatr 2006 S451 57 62 (Pubitemid 43739097)
17. Joubert syndrome presenting with young-age onset ischemic stroke: a possible etiologic association. Eun MY, Seok HY, Kwon DY, Park MH, So-Hee E, Kang YS, J Child Neurol 2011 26 3 381 384 10.1177/0883073810382908 21115747
18. Diffusion tensor imaging of the brain. Alexander AL, Lee JE, Lazar M, Field AS, Neurotherapeutics 2007 4 3 316 329 10.1016/j.nurt.2007.05.011 17599699 (Pubitemid 46962420)
19. Diffusion tensor imaging of early changes in corpus callosum after acute cerebral hemisphere lesions in newborns. Righini A, Doneda C, Parazzini C, Arrigoni F, Matta U, Triulzi F, Neuroradiology 2010 52 11 1025 1035 10.1007/s00234-010-0745-y 20625707
20. Reduced fractional anisotropy on diffusion tensor magnetic resonance imaging after hypoxicischemic encephalopathy. Ward P, Counsell S, Allsop J, Cowan F, Shen Y, Edwards D, Rutherford M, Pediatrics 2006 117 4 619 e630 10.1542/peds.2005-0545 16510613 (Pubitemid 46071466)
21. Obesity and metabolic syndrome and functional and structural brain impairments in adolescence. Yau PL, Castro MG, Tagani A, Tsui WH, Convit A, Pediatrics 2012 130 4 856 e864 10.1542/peds.2012-0324 22945407
22. Alstrom syndrome: a case report. Koray F, Dorter C, Benderli Y, Satman I, Yilmaz T, Dinccag N, Karsidag K, J Oral Sci 2001 43 3 221 224 10.2334/josnusd.43.221 11732744
23. Hedgehog trafficking, cilia and brain functions. Ruat M, Roudaut H, Ferent J, Traiffort E, Differentiation 2012 83 2 97 S104 10.1016/j.diff.2011.11. 011 22169886
24. Hedgehog signaling regulates myelination in the peripheral nervous system through primary cilia. Yoshimura K, Takeda S, Differentiation 2012 83 2 78 S85 10.1016/j.diff.2011.10.006 22101064
25. Neural precursors derived from human embryonic stem cells. Peng H, Chen G, Sci China C Life Sci 2005 48 3 295 299 10.1360/062004-83 16092763 (Pubitemid 44112662)
26. Differentiation of embryonic stem cells into oligodendrocyte precursors. Jiang P, Selvaraj V, Deng W, J Vis Exp 2010 19 (39).
27. Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS). Keppler-Noreuil K, Blumhorst C, Sapp JC, Brinckman D, Johnston J, Nopoulos JC, Biesecker LG, BMC Med Genet 2011 12 101 21794117
28. Body mass index correlates negatively with white matter integrity in the fornix and corpus callosum: A diffusion tensor imaging study. Xu J, Li Y, Lin H, Sinha R, Potenza MN, BMC Med Genet 2011 12 101 21794117
29. Progressive striatal and hippocampal volume loss in initially antipsychoticnaive, first-episode schizophrenia patients treated with quetiapine: relationship to dose and symptoms. Ebdrup BH, Skimminge A, Rasmussen H, Aggernaes B, Oranje B, Lublin H, Baaré W, Glenthøj B, Int J Neuropsychopharmacol 2011 14 1 69 82 10.1017/S1461145710000817 20701823
30. Impact on intracortical myelination trajectory of long acting injection versus oral risperidone in first-episode schizophrenia. Bartzokis G, Lu PH, Raven EP, Amar CP, Detore NR, Couvrette AJ, Mintz J, Ventura J, Casaus LR, Luo JS, Subotnik KL, Nuechterlein KH, Schizophr Res 2012 140 1-3 122 128 10.1016/j.schres.2012.06.036 22809684
31. Plasma longchain omega-3 fatty acids and atrophy of the medial temporal lobe. Samieri C, Maillard P, Crivello F, Proust-Lima C, Peuchant E, Helmer C, Amieva H, Allard M, Dartigues JF, Cunnane SC, Mazoyer BM, Barberger-Gateau P, Neurology 2012 79 7 642 50 10.1212/WNL.0b013e318264e394 22855869
32. The effects of longterm omega-3 fatty acid supplementation on cognition and Alzheimer's pathology in animal models of Alzheimer's disease: a systematic review and meta-analysis. Hooijmans CR, Pasker-de Jong PC, de Vries RB, Ritskes-Hoitinga M, J Alzheimers Dis 2012 28 1 191 209 22002791