TUBB4A de novo mutations cause isolated hypomyelination

Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Genevieve, Schiffmann, Raphael, Simons, Cas and Vanderver, Adeline (2014) TUBB4A de novo mutations cause isolated hypomyelination. Neurology, 83 10: 898-902. doi:10.1212/WNL.0000000000000754

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Author Pizzino, Amy
Pierson, Tyler Mark
Guo, Yiran
Helman, Guy
Fortini, Sebastian
Guerrero, Kether
Saitta, Sulagna
Murphy, Jennifer Louise Patrick
Padiath, Quasar
Xie, Yi
Hakonarson, Hakon
Xu, Xun
Funari, Tara
Fox, Michelle
Taft, Ryan J.
van der Knaap, Marjo S.
Bernard, Genevieve
Schiffmann, Raphael
Simons, Cas
Vanderver, Adeline
Title TUBB4A de novo mutations cause isolated hypomyelination
Journal name Neurology   Check publisher's open access policy
ISSN 0028-3878
Publication date 2014-09
Sub-type Article (original research)
DOI 10.1212/WNL.0000000000000754
Open Access Status
Volume 83
Issue 10
Start page 898
End page 902
Total pages 5
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Collection year 2015
Language eng
Formatted abstract
Objective: We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations.

Methods: Patients in 2 large institutional review board–approved leukodystrophy bioregistries at Children’s National Medical Center and Montreal Children’s Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information were reviewed.

Results: Five patients who presented with hypomyelination without the classic basal ganglia abnormalities were found to have novel TUBB4A mutations through whole-exome sequencing. Clinical and imaging characteristics were reviewed suggesting a spectrum of clinical manifestations.

Conclusion: Hypomyelinating leukodystrophies remain a diagnostic challenge with a large percentage of unresolved cases. This finding expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. TUBB4A mutation screening should be considered in cases of isolated hypomyelination or hypomyelination with nonspecific cerebellar atrophy. N
Keyword Pelizaeus-Merzbacher Disease
Basal Ganglia
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
Institute for Molecular Bioscience - Publications
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