• Users Online: 702
  • Print this page
  • Email this page

Table of Contents
Year : 2020  |  Volume : 3  |  Issue : 1  |  Page : 65-66

Dystonia and adrenoleukodystrophy: an overview

Department of Neurology, Federal University of Santa Maria, Santa Maria, Brazil; Department of Medicine, Federal University of Santa Maria, Santa Maria, Brazil

Date of Submission07-Dec-2019
Date of Acceptance10-Jan-2020
Date of Web Publication01-Apr-2020

Correspondence Address:
Dr. Jamir Pitton Rissardo
Rua Roraima, Santa Maria, Rio Grande do Sul.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AOMD.AOMD_34_19

Rights and Permissions

How to cite this article:
Rissardo JP, Caprara AL. Dystonia and adrenoleukodystrophy: an overview. Ann Mov Disord 2020;3:65-6

How to cite this URL:
Rissardo JP, Caprara AL. Dystonia and adrenoleukodystrophy: an overview. Ann Mov Disord [serial online] 2020 [cited 2023 May 29];3:65-6. Available from: https://www.aomd.in/text.asp?2020/3/1/65/281748

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.
Table 1: Clinical forms of adrenoleukodystrophy

Click here to view

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Mallikarjuna S, Chandra S, Padmanabha H, Christopher R. Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy. Ann Mov Disord 2019;2:130-3.  Back to cited text no. 1
  [Full text]  
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.  Back to cited text no. 2
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O. Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 1986;49:77-86.  Back to cited text no. 3
Moser HW, Moser AE, Singh I, O’Neill P. Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy. Ann Neurol 1984;16:628-41.  Back to cited text no. 4
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.  Back to cited text no. 5


  [Table 1]

This article has been cited by
1 Dopa-responsive dystonia: Guanosine triphosphate cyclohydrolase 1, tyrosine hydroxylase, and sepiapterin reductase
Jamir Pitton,AnaLetícia Fornari Caprara
Ibnosina Journal of Medicine and Biomedical Sciences. 2021; 13(1): 44
[Pubmed] | [DOI]


    Similar in PUBMED
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this article
Article Tables

 Article Access Statistics
    PDF Downloaded193    
    Comments [Add]    
    Cited by others 1    

Recommend this journal