X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia
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All patients with X-linked adrenoleukodystrophy (X-ALD) have mutations in ABCD1 gene, but they may have various different clinical phenotypes. The most frequent phenotype is adrenomyeloneuropathy (AMN) . The first symptom of AMN usually occurs when male patients are between 20 and 30 years of age and neurological disability progresses slowly. But generally cognitive and adrenal involvement are a part of the clinical picture. It rarely may cause isolated spastic paraparesia without cognitive or adrenal involvement .
Here, we report a 34-year-old male presenting with isolated slowly progressive spastic paraparesia who had mutation in ABCD1 gene. As he had no additional cognitive or adrenal involvement, this case once more reminded us that AMN should be kept in mind in the differential diagnosis of patients with isolated spastic paraparesia.
A 34-year-old male presented with progressive weakness in his legs which started 5 years ago. He was not able to run...
Acquisition of data: ZU, CE. Manuscript writing and editing: ST, ZU. Critical revision of the manuscript for important intellectual content: CE. All authors read and approved the final manuscript.
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The authors declare that they have no competing interests.
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Written informed consent was obtained from the patient for publication of this case report. A copy of the written consent is available for review by the Editor of this journal.
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