A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
X-linked adrenoleukodystrophy (ALD) usually presents in childhood as severe cerebral demyelination accompanied by axonal loss or in adults as a progressive spinal cord syndrome (adrenomyeloneuropathy). Rarely, patients present with adult onset spinocerebellar ataxia. We performed mutation analysis i...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Lippincott Williams and Wilkins
1999
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