X-linked adrenoleukodystrophy: Adult cerebral variant
| Autor: | S. S. Deeb, Donald F. Farrell, E. Sanocki, T. A. Knauss, S. R. Hamilton |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Proband medicine.medical_specialty Pathology genetic structures Genetic Linkage Return to work White matter Internal medicine X-linked adrenoleukodystrophy Frontal white matter medicine Adrenal insufficiency Humans Adrenoleukodystrophy X chromosome Brain Diseases Fatty Acids Pigments Biological medicine.disease Pedigree medicine.anatomical_structure Endocrinology Genes Neurology (clinical) Psychology |
| Zdroj: | Neurology. 43:1518-1518 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.43.8.1518 |
| Popis: | We report a unique case of a 43-year-old architect with adult-onset adrenoleukodystrophy who presented primarily with intellectual decline and no evidence of adrenal insufficiency. Serial MRIs taken over a number of months demonstrated the evolution of demyelination starting in the frontal white matter then shifting to the occipital white matter and finally resolving without any therapeutic intervention. Clinically, over this same period of time, the patient's symptoms resolved and he was able to return to work. The proband, his brother, and his nephew were found to have a color-vision defect. Each of these individuals had a red/green gene array that contained a 5' green-red 3' hybrid known to be associated with deutan color-vision defects. The proband's brother and nephew were otherwise normal. The gene that causes adrenoleukodystrophy appears not to be as close to the red/green color vision gene array on the X chromosome as previously reported. |
| Databáze: | OpenAIRE |
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