X-linked adrenoleukodystrophy in women: A cross-sectional cohort study

Brain

Volumn 137, Issue 3, 2014, Pages 693-706

  Engelen, Marc ^a   Barbier, Mathieu ^b,e   Dijkstra, Inge M E ^a   Schür, Remmelt ^a   De Bie, Rob M A ^a   Verhamme, Camiel ^a   Dijkgraaf, Marcel G W ^a   Aubourg, Patrick A ^b,c   Wanders, Ronald J A ^a   Van Geel, Bjorn M ^d   De Visser, Marianne ^a   Poll The, Bwee T ^a   Kemp, Stephan ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Hospital Kremlin Bicê Tre   (France)

^c INSERM   (France)

^d Location Alkmaar   (Netherlands)

^e BICHAT HOSPITAL   (France)

Author keywords

adrenoleukodystrophy; carriers; faecal incontinence; myelopathy; X inactivation

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER D1; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; CHILDHOOD ADRENOLEUKODYSTROPHY; CLINICAL ARTICLE; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED SOMATOSENSORY RESPONSE; FATTY ACID OXIDATION; FECES INCONTINENCE; FEMALE; FIBROBLAST; GENE FREQUENCY; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; MIDDLE AGED; NERVE CONDUCTION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SPINAL CORD DISEASE; X CHROMOSOME INACTIVATION;

ADRENOLEUKODYSTROPHY; CARRIERS; FAECAL INCONTINENCE; MYELOPATHY; X-INACTIVATION;

ADRENOLEUKODYSTROPHY; ADULT; AGE FACTORS; AGED; ATP-BINDING CASSETTE TRANSPORTERS; COHORT STUDIES; CROSS-SECTIONAL STUDIES; EVOKED POTENTIALS; FEMALE; HETEROZYGOTE; HUMANS; MIDDLE AGED; PERIPHERAL NERVOUS SYSTEM DISEASES; PROSPECTIVE STUDIES; SPINAL CORD DISEASES; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84894545119     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt361     Document Type: Article

References (48)

1. Aalfs CM, Koelman JH, Aramideh M, Bour LJ, Bruyn RP, Ongerboer de Visser BW. Posterior tibial nerve somatosensory evoked potentials in slowly progressive spastic paraplegia: a comparative study with clinical signs. J Neurol 1993; 240: 351-6.
2. Aaronson NK, Muller M, Cohen PD, Essink-Bot M, Fekkes M, Sanderman R, et al. Translation, validation, and norming of the Dutch language version of the SF-36 Health Survey in community and chronic disease populations. J Clin Epidemiol 1998; 51: 1055-68.
3. Aramideh M, Hoogendijk JE, Aalfs CM, Posthumus Meyjes FE, de Visser M, Ongerboer de Visser BW. Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I. J Neurol 1992; 239: 277-83.
4. Ashworth B. Preliminary trial of carisoprodol in multiple sclerosis. Practitioner 1964; 192: 540-2.
5. Bieche I, Parfait B, Tozlu S, Lidereau R, Vidaud M. Quantitation of androgen receptor gene expression in sporadic breast tumors by real-time RT-PCR: evidence that MYC is an AR-regulated gene. Carcinogenesis 2001; 22: 1521-6.
6. Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999; 66: 128-36.
7. Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434: 400-4.
8. Dubey P, Fatemi A, Huang H, Nagae-Poetscher L, Wakana S, Barker PB, et al. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Ann Neurol 2005; 58: 758-66.
9. El-Deiry SS, Naidu S, Blevins LS, Ladenson PW Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. J Clin Endocrinol Metab 1997 82 856-60.
10. Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis 2012; 7: 51.
11. Engelen M, Ofman R, Dijkgraaf MGW, Hijzen M, van der Wardt LA, van Geel BM, et al. Lovastatin in X-Linked Adrenoleukodystrophy. N Engl J Med 2010; 362: 276-7.
12. Fatemi A, Barker PB, Ulug AM, Nagae-Poetscher LM, Beauchamp NJ, Moser AB, et al. MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy. Neurology 2003; 60: 1301-7.
13. Jangouk P, Zackowski KM, Naidu S, Raymond GV. Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated. Mol Genet Metab 2012; 105: 180-5.
14. Jung HH, Wimplinger I, Jung S, Landau K, Gal A, Heppner FL. Phenotypes of female adrenoleukodystrophy. Neurology 2007; 68: 960-1.
15. Kemp S, Mooyer PA, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, et al. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J Inherit Metab Dis 1996; 19: 667-74.
16. Kemp S, Theodoulou FL, Wanders RJ. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Br J Pharmacol 2011; 164: 1753-66.
17. Kemp S, Valianpour F, Mooyer PA, Kulik W, Wanders RJ. Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid. Clin Chem 2004; 50: 1824-6.
18. Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol 2010; 20: 831-7.
19. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983; 33: 1444-52.
20. Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol 2002; 52: 683-8.
21. Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 1981; 78: 5066-70.
22. Miozzo M, Selmi C, Gentilin B, Grati FR, Sirchia S, Oertelt S, et al. Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis. Hepatology 2007; 46: 456-62.
23. Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999; 45: 100-10.
24. Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, et al. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 1981; 31: 1241-9.
25. Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991; 13: 254-61.
26. Moser HW, Moser AE, Trojak JE, Supplee SW. Identification of female carriers of adrenoleukodystrophy. J Pediatr 1983; 103: 54-9.
27. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361: 726-30.
28. O'Neill BP, Moser HW, Saxena KM, Marmion LC. Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology 1984; 34: 798-801.
29. Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, et al. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med 2010; 2: 90-7.
30. Penman RW. Addison's disease in association with spastic paraplegia. Br Med J 1960; 1: 402.
31. Pilz P, Schiener P. Kombination von Morbus Addison und Morbus Schilder bei einer 43 jahrigen Frau. Acta Neuropathol (Berl) 1973; 26: 357-60.
32. Post B, Muslimovic D, van GN, Speelman JD, Schmand B, de Haan RJ. Progression and prognostic factors of motor impairment, disability and quality of life in newly diagnosed Parkinson's disease. Mov Disord 2011; 26: 449-56.
33. Restuccia D, Di Lazarro V, Valeriani M, Oliviero A, Le Pera D, Colosimo C, et al. Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. Brain 1997; 120 (Pt 7): 1139-48.
34. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7: 1127-38.
35. Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, et al. Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Orphanet J Rare Dis 2012; 7: 10.
36. Schmidt S, Traber F, Block W, Keller E, Pohl C, von Oertzen J, et al. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 2001; 248: 36-44.
37. Stradomska TJ, Tylki-Szymanska A. Decreasing serum VLCFA levels in ageing X-ALD female carriers. J Inherit Metab Dis 2001; 24: 851-7.
38. Valianpour F, Selhorst JJ, van Lint LE, van Gennip AH, Wanders RJ, Kemp S. Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab 2003; 79: 189-96.
39. Van Asseldonk JT, Van den Berg LH, Kalmijn S, Wokke JH, Franssen H. Criteria for demyelination based on the maximum slowing due to axonal degeneration, determined after warming in water at 37 degrees C: diagnostic yield in chronic inflammatory demyelinating polyneuropathy. Brain 2005; 128: 880-91.
40. van Geel BM. Draagsterschap van X-gebonden adrenoleukodystrofie. Ned Tijdschr Geneeskd 2000; 144: 1764-8.
41. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 1997; 63: 4-14.
42. van Geel BM, Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds. Neurology 1994; 44: 2343-6.
43. van Geel BM, Koelman JH, Barth PG, Ongerboer de Visser BW. Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study. Neurology 1996; 46: 112-8.
44. van Roermund CWT, Visser WF, Ijlst L, van Cruchten A, Boek M, Kulik W, et al. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 2008; 22: 4201-8.
45. Verhamme C, van Schaik IN, Koelman JH, de Haan RJ, de VM. The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain 2009; 132: 3252-62.
46. Watkiss E, Webb T, Bundey S. Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet 1993; 30: 651-4.
47. Weisscher N, Post B, de Haan RJ, Glas CA, Speelman JD, Vermeulen M. The AMC Linear Disability Score in patients with newly diagnosed Parkinson disease. Neurology 2007; 69: 2155-61.
48. Zhang X, De Marcos LC, Schutte-Lensink N, Ofman R, Wanders RJ, Baldwin SA, et al. Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression. Biochem J 2011; 436: 547-557.