Submited on: 30 Sep 2010 04:24:37 PM GMT
Published on: 30 Sep 2010 07:12:32 PM GMT
 
Untitled
Posted by Prof. Markus Butz on 03 Jan 2011 07:11:57 AM GMT

  • Other Comments:

    Dear authors, dear editor,

    I learned from the present manuscript that there are recently new cases found of Unertan syndrome with a late onset around age eight. Unertan syndrome is probably caused by a cerebello-vermial displasia and characterized by ataxia and hypotonia and a developing quadrupedalism. In addition, affected patients are mostly mentally retarded.

    I have read the manuscript with great interest and I think it is well and clearly written. The authors precisely describe the clinical picture of the new found cases and the movie is enlightening.

    The authors also compare late onset Unertan syndrome to other cases of hypotonia and ataxia and show similarities and differences which I find very important in this context. However, the discussion of the pathophysiology is rather weak. The following paragraph

    “So, we see here another variant of UTS, showing slowly emerging quadrupedalism over several years, depending upon the activity of the adaptive self-organizing dynamical system [see 12]. Among others (genetics, neural networks, central pattern generators, rewiring, muscles, hormones, family, imitation, and so on) the environmental factors, such as an uneven, hilly landscape, were important elements for the emergence of the late childhood quadrupedalism during the process of adaptive self-organization occurring within the main dynamic system [12].”

    addresses potential factors for the emergence of this disease but deals with terms that certainly need some more explanation: adaptive self-organizing dynamical system, neural networks, rewiring, genetics are all nice terms but how these mechanism contribute to the observed pathology needs way more explanation. For instance, the authors should try to give some ideas or possible explanations on the question why the onset of quadrupedalism is at age 8. What happens in the brain and nervous system of these children leading to the disappearance of the hypotonia and the development of this particular gait pattern? I think the authors can significantly improve this part of the manuscript by explaining the impact of these terms in order to give the interested reader a little more insight in the pathophysiology of this disease.

    Unfortunately, the quality of the figures and tables is poor and should be in any case enhanced for printing. 

    Dr. Markus Butz, Integrative Neurophysiology, Neuroscience Campus, VU University Amsterdam, The Netherlands.

  • Invited by the author to review this article? :
    Yes
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:
    None
  • How to cite:  Butz M .Untitled[Review of the article 'First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood Quadrupedalism ' by Tan M].WebmedCentral 2010;2(1):WMCRW00319
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Uner Tan Syndrome.
Posted by Prof. Helio A Teive on 06 Dec 2010 12:31:06 AM GMT

1 Is the subject of the article within the scope of the subject category? Yes
2 Are the interpretations / conclusions sound and justified by the data? Yes
3 Is this a new and original contribution? Yes
4 Does this paper exemplify an awareness of other research on the topic? Yes
5 Are structure and length satisfactory? Yes
6 Can you suggest brief additions or amendments or an introductory statement that will increase the value of this paper for an international audience? Yes
7 Can you suggest any reductions in the paper, or deletions of parts? Yes
8 Is the quality of the diction satisfactory? Yes
9 Are the illustrations and tables necessary and acceptable? Yes
10 Are the references adequate and are they all necessary? Yes
11 Are the keywords and abstract or summary informative? Yes
  • Other Comments:

    This is a very interesting case report about this rare form of congenital cerebellar malformation with gait ataxia, mental retardation and quadrupedal locomotion.

    I have some comments and suggestions to the authors.

    1-Title: I suggest to the authors use a title more objective, such us: Uner Tan syndrome – Case report with late childhood quadrupedalism.

    2-Abstract: Background: I suggest describe the UTS as a syndrome with cerebellar ataxia (truncal and gait ataxia, and dysarthria), mental retardatiom, and quadrupedalism.

    3-Introduction: There are some words misspelled, such as cerebrello-vermial hypoplasia, then cerebello-vermial and ponto-medullar hypoplasia.

    4-Methods: The authors stated that… One the authors (MT), who is professor of neurology, performed the traditional neurological examinations (muscle tonus, etc, Babinsky sign (?) and so on). My suggestion is: The neurological examination was performed by one the authors (MT).

    5-Results:  The authors wrote that daughter D1 (27 years old) was completely dystonic,… My suggestion is:  Patient D1 had a generalized dystonia.

    6-Discussion: I understand that UTS represents a rare form of congenital cerebellar malformation (vermis and pontocerebellar hypoplasia) with cerebellar ataxia, associated to mental retardation and quadrupedalism. The authors discussed a differential diagnosis with DES (Dysequilibrium syndrome, instead disequilibrium syndrome), Hutteries, and Cayman ataxia, but, in fact, there are an expressive number of congenital cerebellar malformations, with autosomal recessive cerebellar ataxia, and then the discussion could be oriented to this topic. The authors stated that a single gene or genes cannot be the primary source of normal or pathological behavior, but I think that molecular genetic studies probably will clarify this syndrome in the future.

    7-Conclusion: I think that the word incubation is not a correct word to use in this condition. The authors concluded that: Concerning genetics, the minor role of gene(s) in the origin of diseases including UTS was accentuated. I strongly disagree with the authors, because there is no extensive genetic investigation to support this conclusion.

    8-Illustrations:  Illustration 2 is not understandable.

     Illustration 3: Examination: Babinski sign (instead Babinsky!), pes pedus (?).

  • Competing interests:
    No
  • Invited by the author to review this article? :
    Yes
  • Have you previously published on this or a similar topic?:
    Yes
  • References:
    Neurology 2004; 63: 1509-1512. Teive et al.
  • Experience and credentials in the specific area of science:

    Movement Disorders

    Spinocerebellara ataxias

  • How to cite:  Teive H A.Uner Tan Syndrome.[Review of the article 'First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood Quadrupedalism ' by Tan M].WebmedCentral 2010;1(12):WMCRW00198
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Uner Tan Syndrome.
Posted by Prof. Helio A Teive on 06 Dec 2010 12:20:06 AM GMT

1 Is the subject of the article within the scope of the subject category? Yes
2 Are the interpretations / conclusions sound and justified by the data? Yes
3 Is this a new and original contribution? Yes
4 Does this paper exemplify an awareness of other research on the topic? Yes
5 Are structure and length satisfactory? No
6 Can you suggest brief additions or amendments or an introductory statement that will increase the value of this paper for an international audience? Yes
7 Can you suggest any reductions in the paper, or deletions of parts? Yes
8 Is the quality of the diction satisfactory? Yes
9 Are the illustrations and tables necessary and acceptable? Yes
10 Are the references adequate and are they all necessary? Yes
11 Are the keywords and abstract or summary informative? Yes
  • Other Comments:

    This paper is a case report about a rare form of congenital cerebellar ataxia, associated to quadupedalism.

  • Competing interests:
    I have nothing to declare
  • Invited by the author to review this article? :
    Yes
  • Have you previously published on this or a similar topic?:
    Yes
  • References:
    Teive HAG et al. Clinical phenotype of Brazilian families with Spinocerebellar ataxia 10. Neurology 2004; 63: 1509-1512.
  • Experience and credentials in the specific area of science:

    Movement Disorders,

    Spinocerebellar ataxias

  • How to cite:  Teive H A.Uner Tan Syndrome.[Review of the article 'First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood Quadrupedalism ' by Tan M].WebmedCentral 2010;1(12):WMCRW00197
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  • Other Comments:

    The article  “First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood

    Quadrupedalism” is very interesting . Without any suspicion it is lightening one of the features of the “Uner Tan Syndrome” in my opinion. Quadrupedalism is solution of the equilibrium problem due to cerebeller system dysfunction.  Emergence of Late childhood quadrupedalism can not accept as a late onset quadrupedalism. And I think also that Tan U and Tan M did not mean that these cases were a sample of the late onset quadrupedalism. 

  • Competing interests:
    No
  • Invited by the author to review this article? :
    No
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:

    Neurophysiology, human reflexes

  • How to cite:  Uysal H .Adaptive self-organization or late onset quadripedalism[Review of the article 'First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood Quadrupedalism ' by Tan M].WebmedCentral 2010;1(11):WMCRW00128
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  • Other Comments: This paper describes new cases of the Uner Tan syndrome. Apparently this syndrome causally related with specific mutations in the very low-density lipoprotein receptor (VLDLR) gene (Ozcelik et al., PNAS USA 105: 4232, 2008). The VLDLR is a component of the rielin signaling pathway involved not only in the migration of neuroblasts in cerebral and cerebellar cortices, but also in learning capabilities, as shown recently in wild-type and transgenic mice (Pujadas et al., J Neurosci 30: 4636, 2010). Although with a late onset, the cases described here presented quadrupedal locomotion, a other characteristic symptoms of the Uner Tan syndrome. In my opinion it will be very convenient to carry out a more detailed neurological study of this interesting syndrome. In particular, I wonder about their vestibular functioning. For example, there is an adaptive modification in their vestibular system, because of the 90 deg change in head position during quadrupedal locomotion? Moreover, more information regarding cerebellar functions could be helpful to fully understand adaptive changes taking place in the brain of those patients. Finally, other simple test as EEG and sensory evoked potentials should be carried out (if possible) to better understand cerebral cortical functioning.
  • Competing interests:
    No
  • Invited by the author to review this article? :
    Yes
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:
    My expertise is on neural mechanisms underlying associative (classical and instrumental) learning, with special relation to the cerebellum and the hippocampus.
  • How to cite:  Gruart A .A comment on the Uner Tan syndrome described in this paper[Review of the article 'First Cases of Uner Tan Syndrome in Anatolia, with Progressive Motor Improvement, Adaptive Self-Organization and Emergence of Late Childhood Quadrupedalism ' by Tan M].WebmedCentral 2010;1(10):WMCRW0054
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