A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
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DOI: 10.3389/fneur.2018.00271
Abstract: X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a… read more here.
Keywords: novel variant; ataxia; abcd1 gene; variant abcd1 ... See more keywords