Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenoleukodystrophy
• Share to ATP Binding Cassette Transporter, Subfamily D, Member 1