부신백질형성장애가 있는 한국인 가족 안에서 나타난 다양한 임상양상

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.

Adrenoleukodystrophy (ALD), caused by the alteration in ABCD1 gene, is an X-linked progressive neurodegenerative disease characterized by the accumulation of very long chain fatty acids (VLCFA). ALD shows highly variable clinical presentations. The proband, a 53-year-old man, presented with a six-year history 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 diagnosed with adult onset adrenomyeloneuropathy (AMN). Additionally, there were affected men with variable phenotypes of ALD in his family. The grandson of proband’s sister revealed juvenile onset AMN. The proband’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 variability suggests the presence of modifying factors besides ABCD1 mutations in ALD.