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Morphological features in juvenile Huntington disease associated with cerebellar atrophy — magnetic resonance imaging morphometric analysis

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Abstract

Background

The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease.

Objective

To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy.

Materials and methods

We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Automatic segmentation of MRI images of the cerebrum and cerebellum was performed and volumes of cerebral substructures and cerebellar lobules of juvenile Huntington disease patients were compared to those of 30 normal gender- and age-matched controls. Juvenile Huntington disease segmented volumes were compared to those of age-matched controls by using a z-score.

Results

Three cerebral substructures (caudate nucleus, putamen and globus pallidus) demonstrated a reduction in size of more than three standard deviations from the normal mean although it was not salient in one of them at clinical reading and was not diagnosed. The size of cerebellum lobules, cerebellum grey matter and cerebellum cortex was reduced by more than two standard deviations in the three patients. The cerebellar atrophy was predominant in the posterior lobe.

Conclusion

Our study sheds light on atrophic cerebral and cerebellar structures in juvenile Huntington disease. Automatic segmentations of the cerebellum provide patterns that may be of diagnostic interest in this disease.

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Acknowledgments

The authors thank Nikki Sabourin-Gibbs of Rouen University Hospital for editorial assistance.

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Authors and Affiliations

  1. Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France

    Abderrahmane Hedjoudje, Emmanuel Gerardin, Jean-Nicolas Dacher & Pierre-Hugues Vivier

  2. Department of Genetics, Rouen University Hospital, Rouen, France

    Gaël Nicolas, Alice Goldenberg & Lucie Guyant-Maréchal

  3. Inserm U1079, CNR-MAJ, Rouen University, Rouen, France

    Gaël Nicolas

  4. Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University, Rouen, France

    Gaël Nicolas, Alice Goldenberg & Lucie Guyant-Maréchal

  5. Department of Pediatry, Rouen University Hospital, Rouen, France

    Catherine Vanhulle, Clémentine Dumant-Forrest, Guillaume Deverrière, Pauline Treguier & Isabelle Michelet

  6. Department of Neurophysiology, Rouen University Hospital, Rouen, France

    Lucie Guyant-Maréchal

  7. Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France

    Didier Devys

Authors
  1. Abderrahmane Hedjoudje
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  2. Gaël Nicolas
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  3. Alice Goldenberg
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  4. Catherine Vanhulle
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  8. Isabelle Michelet
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  9. Lucie Guyant-Maréchal
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  10. Didier Devys
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  11. Emmanuel Gerardin
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  12. Jean-Nicolas Dacher
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  13. Pierre-Hugues Vivier
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Correspondence to Abderrahmane Hedjoudje.

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Hedjoudje, A., Nicolas, G., Goldenberg, A. et al. Morphological features in juvenile Huntington disease associated with cerebellar atrophy — magnetic resonance imaging morphometric analysis. Pediatr Radiol 48, 1463–1471 (2018). https://doi.org/10.1007/s00247-018-4167-z

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  • DOI: https://doi.org/10.1007/s00247-018-4167-z

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