Isolated Cerebellar Variant of Adrenoleukodystrophy with ade novoAdenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation
| Autor: | Zhejiu Quan, Hyo Suk Nam, Young Mock Lee, Kyo Yeon Koo, Sang Mi Lee, Hoon Chul Kang, Joon Won Kang |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Cerebellum Pathology medicine.medical_specialty Very long chain fatty acid Case Report Gene mutation Biology ATP Binding Cassette Transporter Subfamily D Member 1 Lesion White matter chemistry.chemical_compound Cerebellar Diseases medicine Cerebellar Degeneration Humans X-linked adrenoleukodystrophy Adrenoleukodystrophy Genetics very long chain fatty acid Fatty Acids ABCD1 cerebellar General Medicine medicine.disease medicine.anatomical_structure Dentate nucleus chemistry Mutation ATP-Binding Cassette Transporters medicine.symptom |
| Zdroj: | Yonsei Medical Journal |
| ISSN: | 1976-2437 0513-5796 |
| DOI: | 10.3349/ymj.2014.55.4.1157 |
| Popis: | X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms. |
| Databáze: | OpenAIRE |
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