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LETTER TO THE EDITOR |
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Year : 2020 | Volume
: 3
| Issue : 1 | Page : 65-66 |
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Dystonia and adrenoleukodystrophy: an overview
Jamir Pitton Rissardo, Ana L Fornari Caprara
Department of Neurology, Federal University of Santa Maria, Santa Maria, Brazil; Department of Medicine, Federal University of Santa Maria, Santa Maria, Brazil
Date of Submission | 07-Dec-2019 |
Date of Acceptance | 10-Jan-2020 |
Date of Web Publication | 01-Apr-2020 |
Correspondence Address: Dr. Jamir Pitton Rissardo Rua Roraima, Santa Maria, Rio Grande do Sul. Brazil
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/AOMD.AOMD_34_19
How to cite this article: Rissardo JP, Caprara AL. Dystonia and adrenoleukodystrophy: an overview. Ann Mov Disord 2020;3:65-6 |
Dear Editor,
We read the article entitled “Dystonic opisthotonus: a rare phenotype of adrenoleukodystrophy” in the esteemed journal Annals of Movement Disorders with great interest. Mallikarjuna et al.[1] reported a case of a gradeschooler presenting with progressive cognitive impairment, psychological issues, and extrapyramidal and dystonic symptoms. Then, X-linked adrenoleukodystrophy was diagnosed.
Here, we would like to address some topics that together with the study of Mallikarjuna et al.[1] could lead to a better comprehension of adrenoleukodystrophy. In this context, adrenoleukodystrophy is an uncommon disease as the authors’ stated, but the presentation with movement disorders, or more specifically dystonic symptoms, is one of the most common.[2],[3],[4] As is true for some other inborn errors of metabolism, there are four types of adrenoleukodystrophy categorized according to the time of the onset of the disease. The neonatal and childhood adrenoleukodystrophies are the most common types associated with dystonic movements. A summary of the main characteristics found in one of these phenotypic studies is given in [Table 1].[4],[5] Therefore, we believe that the authors presented the case very well and promoted adrenoleukodystrophy awareness.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References | |  |
1. | Mallikarjuna S, Chandra S, Padmanabha H, Christopher R. Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy. Ann Mov Disord 2019;2:130-3. [Full text] |
2. | Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, et al. Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 1980;7:542-9. |
3. | Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O. Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 1986;49:77-86. |
4. | Moser HW, Moser AE, Singh I, O’Neill P. Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy. Ann Neurol 1984;16:628-41. |
5. | Moser HW, Moser AB, Kawamura N, Migeon B, O’Neill BP, Fenselau C, et al. Adrenoleukodystrophy: Studies of the phenotype, genetics and biochemistry. Johns Hopkins Med J 1980;147:217-24. |
[Table 1]
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