부신백질형성장애가 있는 한국인 가족 안에서 나타난 다양한 임상양상
Variable Clinical Presentations in a Korean Family with an Adrenoleukodystrophy
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초록
Adrenoleukodystrophy (ALD), caused by the alteration in ABCD1 gene, is an X-linked progressive neurodegenerativedisease characterized by the accumulation of very long chain fatty acids (VLCFA). ALDshows highly variable clinical presentations. The proband, a 53-year-old man, presented with a six-yearhistory of progressive spastic paraparesis and voiding difficulty. The plasma VLCFA level was elevated. Because c.1394-2A>G ABCD1 mutation was identified through genetic test, the patient was diagnosedwith adult onset adrenomyeloneuropathy (AMN). Additionally, there were affected men with variablephenotypes of ALD in his family. The grandson of proband’s sister revealed juvenile onset AMN. Theproband’s nephew and younger brother had child onset cerebral ALD and spinocerebellar phenotype,respectively. Here, we report phenotypic variability in a Korean family with ALD. This intrafamilial variabilitysuggests the presence of modifying factors besides ABCD1 mutations in ALD.
Abstract
Adrenoleukodystrophy (ALD), caused by the alteration in ABCD1 gene, is an X-linked progressive neurodegenerativedisease characterized by the accumulation of very long chain fatty acids (VLCFA). ALDshows highly variable clinical presentations. The proband, a 53-year-old man, presented with a six-yearhistory of progressive spastic paraparesis and voiding difficulty. The plasma VLCFA level was elevated. Because c.1394-2A>G ABCD1 mutation was identified through genetic test, the patient was diagnosedwith adult onset adrenomyeloneuropathy (AMN). Additionally, there were affected men with variablephenotypes of ALD in his family. The grandson of proband’s sister revealed juvenile onset AMN. Theproband’s nephew and younger brother had child onset cerebral ALD and spinocerebellar phenotype,respectively. Here, we report phenotypic variability in a Korean family with ALD. This intrafamilial variabilitysuggests the presence of modifying factors besides ABCD1 mutations in ALD.
참고문헌 (10)
- Moser HW, "X-linked adrenoleukodystrophy", Nat Clin Pract Neurol, 3, pp.140~151 (2007)
- Mosser J, "Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters", Nature, 361, pp.726~730 (1993)
- Kemp S, "X-linked adrenoleukodystrophy:clinical, metabolic, genetic and pathophysiological aspects", Biochim Biophys Acta, 1822, pp.1465~1474 (2012)
- Kumar N, "De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy", Pediatr Neurol, 39, pp.289~292 (2008)
- van Geel BM, "Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy", Ann Neurol, 49, pp.186~194 (2001)
- Kemp S, "ABCD1 mutations and the Xlinked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations", Hum Mutat, 18, pp.499~515 (2001)
- 박형준, "Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy", Yonsei Medical Journal, 55(3), pp.676~682 (2014), 연세대학교의과대학[DOI]
- Powers JM, "Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy", J Neuropathol Exp Neurol, 59, pp.89~102 (2000)
- Soardi FC, "Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation", Arq Bras Endocrinol Metabol, 54, pp.738~743 (2010)
- Sobue G, "Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins", Ann Neurol, 36, pp.912~915 (1994)