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 |
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Lippincott Williams and Wilkins
1999
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| _version_ | 1797096850697748480 |
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| author | Dunne, E Hyman, N Huson, S Németh, A |
| author_facet | Dunne, E Hyman, N Huson, S Németh, A |
| author_sort | Dunne, E |
| collection | OXFORD |
| description | 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 in a family with several members who had this rare phenotype and identified a single nucleotide deletion in exon 2 of the ALD gene. This is the first mutation analysis to be reported in this unusual phenotypic variant of ALD and the first deletion to be reported in exon 2. |
| first_indexed | 2024-03-07T04:47:25Z |
| format | Journal article |
| id | oxford-uuid:d3c698f1-19fa-4eea-950b-8382dda348d4 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T04:47:25Z |
| publishDate | 1999 |
| publisher | Lippincott Williams and Wilkins |
| record_format | dspace |
| spelling | oxford-uuid:d3c698f1-19fa-4eea-950b-8382dda348d42022-03-27T08:13:40ZA novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:d3c698f1-19fa-4eea-950b-8382dda348d4EnglishSymplectic Elements at OxfordLippincott Williams and Wilkins1999Dunne, EHyman, NHuson, SNémeth, AX-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 in a family with several members who had this rare phenotype and identified a single nucleotide deletion in exon 2 of the ALD gene. This is the first mutation analysis to be reported in this unusual phenotypic variant of ALD and the first deletion to be reported in exon 2. |
| spellingShingle | Dunne, E Hyman, N Huson, S Németh, A A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title | A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title_full | A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title_fullStr | A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title_full_unstemmed | A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title_short | A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. |
| title_sort | novel point mutation in x linked adrenoleukodystrophy presenting as a spinocerebellar degeneration |
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