Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X‐linked adrenoleukodystrophy (X‐ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in...
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| Published in | Annals of neurology Vol. 49; no. 4; pp. 512 - 517 |
|---|---|
| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
John Wiley & Sons, Inc
01.04.2001
Willey-Liss |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X‐linked adrenoleukodystrophy (X‐ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998. The minimum frequency of hemizygotes identified in the United States is estimated to be 1:42,000 and that of hemizygotes plus heterozygotes 1:16,800. Our studies involved 616 pedigrees with a total of 12,787 identified at‐risk members. Diagnostic assays were performed in 4,169 at‐risk persons (33%) and included members of the extended family. Only 5% of male probands and 1.7% of X‐ALD hemizygotes were found to have new mutations. The extended family testing led to the identification of 594 hemizygotes and 1,270 heterozygotes. Two hundred fifty of the newly identified hemizygotes were asymptomatic and represent the group in which therapy has the greatest chance of success. Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at‐risk relatives of X‐ALD patients and should include members of the extended family. Ann Neurol 2001;49:512–517 |
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| AbstractList | Abstract
Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X‐linked adrenoleukodystrophy (X‐ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998. The minimum frequency of hemizygotes identified in the United States is estimated to be 1:42,000 and that of hemizygotes plus heterozygotes 1:16,800. Our studies involved 616 pedigrees with a total of 12,787 identified at‐risk members. Diagnostic assays were performed in 4,169 at‐risk persons (33%) and included members of the extended family. Only 5% of male probands and 1.7% of X‐ALD hemizygotes were found to have new mutations. The extended family testing led to the identification of 594 hemizygotes and 1,270 heterozygotes. Two hundred fifty of the newly identified hemizygotes were asymptomatic and represent the group in which therapy has the greatest chance of success. Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at‐risk relatives of X‐ALD patients and should include members of the extended family. Ann Neurol 2001;49:512–517 Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X‐linked adrenoleukodystrophy (X‐ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998. The minimum frequency of hemizygotes identified in the United States is estimated to be 1:42,000 and that of hemizygotes plus heterozygotes 1:16,800. Our studies involved 616 pedigrees with a total of 12,787 identified at‐risk members. Diagnostic assays were performed in 4,169 at‐risk persons (33%) and included members of the extended family. Only 5% of male probands and 1.7% of X‐ALD hemizygotes were found to have new mutations. The extended family testing led to the identification of 594 hemizygotes and 1,270 heterozygotes. Two hundred fifty of the newly identified hemizygotes were asymptomatic and represent the group in which therapy has the greatest chance of success. Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at‐risk relatives of X‐ALD patients and should include members of the extended family. Ann Neurol 2001;49:512–517 Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked adrenoleukodystrophy (X-ALD) hemizygotes from the United States identified each year in the two laboratories that perform most of the assays in this country: the Kennedy Krieger Institute between 1981 and 1998 and the Mayo Clinic Rochester from 1996 to 1998. The minimum frequency of hemizygotes identified in the United States is estimated to be 1:42,000 and that of hemizygotes plus heterozygotes 1:16,800. Our studies involved 616 pedigrees with a total of 12,787 identified at-risk members. Diagnostic assays were performed in 4,169 at-risk persons (33%) and included members of the extended family. Only 5% of male probands and 1.7% of X-ALD hemizygotes were found to have new mutations. The extended family testing led to the identification of 594 hemizygotes and 1,270 heterozygotes. Two hundred fifty of the newly identified hemizygotes were asymptomatic and represent the group in which therapy has the greatest chance of success. Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family. |
| Author | Moser, Hugo W. Raymond, Gerald V. Piero Rinaldo Bezman, Lena Smith, Kirby D. Moser, Ann B. Kass, Nancy E. Watkins, Paul A. |
| Author_xml | – sequence: 1 givenname: Lena surname: Bezman fullname: Bezman, Lena organization: Departments of Neurology and – sequence: 2 givenname: Ann B. surname: Moser fullname: Moser, Ann B. organization: Departments of Neurology and – sequence: 3 givenname: Gerald V. surname: Raymond fullname: Raymond, Gerald V. organization: Departments of Neurology and – sequence: 4 surname: Piero Rinaldo fullname: Piero Rinaldo organization: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN – sequence: 5 givenname: Paul A. surname: Watkins fullname: Watkins, Paul A. organization: Departments of Neurology and – sequence: 6 givenname: Kirby D. surname: Smith fullname: Smith, Kirby D. organization: Pediatrics, Kennedy Krieger Institute and the Johns Hopkins School of Medicine, Baltimore, MD – sequence: 7 givenname: Nancy E. surname: Kass fullname: Kass, Nancy E. organization: The Johns Hopkins University School of Public Health, Department of Health Policy and Management, Baltimore, MD – sequence: 8 givenname: Hugo W. surname: Moser fullname: Moser, Hugo W. email: moser@kennedykrieger.org organization: Departments of Neurology and |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=945896$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/11310629$$D View this record in MEDLINE/PubMed |
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| Keywords | Endocrinopathy Human Nervous system diseases Family study Metabolic diseases Lipids Enzymopathy Epidemiology Cerebral disorder Genetic disease Incidence Adrenoleukodystrophy Adrenal gland diseases |
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| References_xml | – volume: 20 start-page: 344 year: 1956 end-page: 347 article-title: Mutation in the sex‐linked recessive type of muscular dystrophy: a possible sex difference publication-title: Ann Hum Genet – volume: 192 start-page: 133 year: 1990 end-page: 144 article-title: Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography publication-title: Clin Chim Acta – volume: 66 start-page: 128 year: 1999 end-page: 136 article-title: Accurate DNA‐based diagnostic and carrier testing for X‐linked adrenoleukodystrophy publication-title: Mol Genet Metab – volume: 66 start-page: 293 year: 2000 end-page: 307 article-title: Laws restricting health insurers' use of genetic information: impact on genetic discrimination publication-title: Am J Hum Genet – volume: 17 year: 1996 – volume: 120 start-page: 1485 year: 1997 end-page: 1508 article-title: Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy publication-title: Brain – volume: 31 start-page: 227 year: 2000 end-page: 239 article-title: X‐linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. a study involving 372 patients publication-title: Neuropediatrics – volume: 23 start-page: 475 year: 2000 end-page: 486 article-title: A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry publication-title: J Inherit Metab Dis – volume: 41 start-page: 295 year: 1991 end-page: 300 article-title: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families publication-title: Am J Med Genet – year: 2000 article-title: Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy publication-title: Ann Neurol – volume: 3 start-page: 265 year: 1994 end-page: 271 article-title: The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein publication-title: Hum Mol Genet – volume: 45 start-page: 100 year: 1999 end-page: 110 article-title: Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls publication-title: Ann Neurol – volume: 120 start-page: 1139 year: 1997 end-page: 1148 article-title: Neurophysiological abnormalities in adrenoleukodystrophy carriers: evidence of different degrees of central nervous system involvement publication-title: Brain – volume: 62 start-page: 474 year: 1998 end-page: 483 article-title: Professional disclosure of familial genetic information: the American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure publication-title: Am J Hum Genet – volume: 22 start-page: 4 year: 1999 end-page: 12 article-title: The neurobiology of X‐linked adrenoleukodystrophy, a demyelinating peroxisomal disorder publication-title: Trends Neurosci – volume: 18 start-page: 398 year: 1995 end-page: 412 article-title: The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome publication-title: J Inherit Metab Dis – volume: 356 start-page: 713 year: 2000 end-page: 718 article-title: Long‐term beneficial effect of bone marrow transplantation for childhood onset cerebral X‐linked adrenoleukodystrophy publication-title: Lancet – volume: 322 start-page: 1860 year: 1990 end-page: 1866 article-title: Reversal of early neurologic and neuroradiologic manifestations of X‐ linked adrenoleukodystrophy by bone marrow transplantation publication-title: N Engl J Med – volume: 76 start-page: 415 year: 1998 end-page: 419 article-title: Incidence of X‐linked adrenoleukodystrophy and the relative frequency of its phenotypes publication-title: Am J Med Genet – volume: 58 start-page: 1135 year: 1996 end-page: 1144 article-title: Mutational and protein analysis of patients and heterozygous women with X‐linked adrenoleukodystrophy publication-title: Am J Hum Genet – volume: 57 start-page: 292 year: 1995 end-page: 301 article-title: Altered expression of ALDP in X‐linked adrenoleukodystrophy publication-title: Am J Hum Genet – ident: e_1_2_6_14_2 doi: 10.1002/(SICI)1096-8628(19980413)76:5<415::AID-AJMG9>3.0.CO;2-L – ident: e_1_2_6_23_2 doi: 10.1086/301707 – volume: 57 start-page: 292 year: 1995 ident: e_1_2_6_6_2 article-title: Altered expression of ALDP in X‐linked adrenoleukodystrophy publication-title: Am J Hum Genet contributor: fullname: Watkins PA – ident: e_1_2_6_20_2 doi: 10.1086/302714 – ident: e_1_2_6_9_2 doi: 10.1007/BF00710052 – ident: e_1_2_6_13_2 doi: 10.1093/brain/120.7.1139 – year: 2000 ident: e_1_2_6_21_2 article-title: Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy publication-title: Ann Neurol contributor: fullname: Van Geel BM – volume: 58 start-page: 1135 year: 1996 ident: e_1_2_6_5_2 article-title: Mutational and protein analysis of patients and heterozygous women with X‐linked adrenoleukodystrophy publication-title: Am J Hum Genet contributor: fullname: Feigenbaum V – ident: e_1_2_6_19_2 doi: 10.1023/A:1005612214179 – ident: e_1_2_6_18_2 doi: 10.1055/s-2000-9236 – volume-title: The metabolic and molecular basis of inherited disease ident: e_1_2_6_17_2 contributor: fullname: Scriver CR – ident: e_1_2_6_8_2 doi: 10.1056/NEJM199006283222607 – volume-title: Mathematical and statistical methods for genetic analysis year: 1996 ident: e_1_2_6_15_2 contributor: fullname: Lange K – ident: e_1_2_6_3_2 doi: 10.1093/hmg/3.2.265 – ident: e_1_2_6_11_2 doi: 10.1016/0009-8981(90)90077-6 – ident: e_1_2_6_22_2 doi: 10.1002/ajmg.1320410307 – ident: e_1_2_6_2_2 doi: 10.1093/brain/120.8.1485 – ident: e_1_2_6_12_2 doi: 10.1016/S0166-2236(98)01319-8 – ident: e_1_2_6_4_2 doi: 10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U – ident: 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| Snippet | Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X‐linked... Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of X-linked... Abstract Utilizing the plasma very long chain fatty acid assay, supplemented by mutation analysis and immunofluorescence assay, we determined the number of... |
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| Title | Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening |
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