Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, and clinical presentation as adult-onset spinocerebellar ataxia has been rarely reported. Here, we report a Taiwanese family with X-ALD. The proband, a 37-year-old man presented with dysarthria, cerebellar ataxia and mild spastic paraparesis, and had atrophy of cerebellum and upper cervical cord on MRI. One of his nephews, a 9-year-old boy had a classic childhood cerebral ALD phenotype. This family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. This is the first report of the 2245delA mutation presenting with a spinocerebellar variant of X-ALD.
Li
Jie-Yuan
JY
Division of Neurology, Kaohsiung Veterans General Hospital, National Yang-Ming University, Taiwan. jyli@vghks.gov.tw
Hsu
Chia-Chi
CC
Tsai
Chi-Ren
CR
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D000328:Adult; D044466:Asian People / Q000235:genetics; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology; D013118:Spinal Cord Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013624:Taiwan
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005819:Genetic Markers