Adrenoleukodystrophy in Norway: High rate of de novo mutations and age-dependent penetrance

Pediatric Neurology

Volumn 48, Issue 3, 2013, Pages 212-219

  Horn, Morten A ^a,b   Retterstøl, Lars ^a   Abdelnoor, Michael ^a   Skjeldal, Ola H ^c   Tallaksen, Chantal M E ^a,b  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c VESTRE VIKEN HOSPITAL TRUST   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; ADULT; AGE; ARTICLE; BIRTH; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NORWAY; PENETRANCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; AGE FACTORS; ATP-BINDING CASSETTE TRANSPORTERS; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; NORWAY; PENETRANCE; PHENOTYPE; PREVALENCE; RETROSPECTIVE STUDIES; SURVIVAL RATE;

EID: 84873962288     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.12.007     Document Type: Article

References (30)

1. H.W. Moser, A. Mahmood, and G.V. Raymond X-linked adrenoleukodystrophy Nat Clin Pract Neurol 3 2007 140 151
2. H.W. Moser Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy Brain 120 1997 1485 1508
3. H.W. Moser, A.E. Moser, J.E. Trojak, and S.W. Supplee Identification of female carriers of adrenoleukodystrophy J Pediatr 103 1983 54 59
4. L. Bezman, A.B. Moser, and G.V. Raymond Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening Ann Neurol 49 2001 512 517
5. M.J. Coll, N. Palau, C. Camps, M. Ruiz, T. Pampols, and M. Giros X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females Clin Genet 67 2005 418 424
6. B.M. van Geel, J. Assies, G.J. Weverling, and P.G. Barth Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds Neurology 44 1994 2343 2346
7. H.W. Moser, A.B. Moser, S. Naidu, and A. Bergin Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy Dev Neurosci 13 1991 254 261
8. C. Sereni, M. Paturneau-Jouas, P. Aubourg, N. Baumann, and J. Feingold Adrenoleukodystrophy in France: an epidemiological study Neuroepidemiology 12 1993 229 233
9. E.P.E. Kirk, J.M. Fletcher, P. Sharp, B. Carey, and A. Poulos X-linked adrenoleukodystrophy: the Australasian experience Am J Med Genet 76 1998 420 423
10. A. Fatemi, P.B. Barker, and A.M. Ulug MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy Neurology 60 2003 1301 1307
11. S. Schmidt, F. Träber, and W. Block Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy J Neurol 248 2001 36 44
12. D. Restuccia, V. Di Lazarro, and M. Valeriani Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement Brain 120 1997 1139 1148
13. P. Jangouk, K.M. Zackowski, S. Naidu, and G.V. Raymond Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated Mol Genet Metab 105 2012 180 185
14. B.M. van Geel, L. Bezman, D.J. Loes, H.W. Moser, and G.V. Raymond Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy Ann Neurol 49 2001 186 194
15. E. von Elm, D.G. Altman, M. Egger, S.J. Pocock, P.C. Gøtzsche, and J.P. Vandenbroucke The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies Lancet 370 2007 1453 1457
16. A.K. Erichsen, J. Koht, A. Stray-Pedersen, M. Abdelnoor, and C.M. Tallaksen Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study Brain 132 2009 1577 1588
17. W. Köhler, and P. Sokolowski A new disease-specific scoring system for adult phenotypes of X-linked adrenoleukodystrophy J Mol Neurosci 13 1999 247 252
18. P. Heim, M. Claussen, and B. Hoffmann Leukodystrophy incidence in Germany Am J Med Genet 71 1997 475 478
19. A. Di Biase, S. Salvati, and C. Avellino X-linked adrenoleukodystrophy: first report of the Italian Study Group Ital J Neurol Sci 19 1998 315 319
20. Y. Takemoto, Y. Suzuki, and A. Tamakoshi Epidemiology of X-linked adrenoleukodystrophy in Japan J Hum Genet 47 2002 590 593
21. C.P. Guimarães, M. Lemos, C. Sá-Miranda, and J.E. Azevedo Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene Mol Genet Metab 76 2002 62 67
22. L.B. Jardim, A.C. da Silva, and D. Blank X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil Brain Dev 32 2009 180 190
23. L. Bezman, and H.W. Moser Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes Am J Med Genet 76 1998 415 419
24. E. Watkiss, T. Webb, and S. Bundey Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet 30 1993 651 654
25. E.M. Maier, S. Kammerer, A.C. Muntau, M. Wichers, A. Braun, and A.A. Roscher Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation Ann Neurol 52 2002 683 688
26. A. Semmler, X. Bao, and G. Cao Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample J Neurol 256 2009 1277 1280
27. R.D. Brose, D. Avramopoulos, and K.D. Smith SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes J Neurol 259 2012 1440 1447
28. S. Kemp, A. Pujol, and H.R. Waterham ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations Hum Mutat 18 2001 499 515
29. G.V. Raymond, R.O. Jones, and A.B. Moser Newborn screening for adrenoleukodystrophy: implications for therapy Mol Diagn Ther 11 2007 381 384
30. W.C. Hubbard, A.B. Moser, and A.C. Liu Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method Mol Genet Metab 97 2009 212 220