Document Detail

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
MedLine Citation:
PMID:  24974158     Owner:  NLM     Status:  Publisher    
OBJECTIVE: Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes. Clinical entity of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is one of them.
METHOD: A male patient showed pendular nystagmus, infantile hypotonia, an abnormal pattern of brain auditory evoked potential, and hypomyelination on brain magnetic resonance imaging, which suggested Pelizaeus-Merzbacher disease (PMD) as the candidate diagnosis; however, no abnormality was found in the proteolipid protein 1 gene (PLP1) that is responsible for PMD. Whole exome sequencing was performed to identify pathogenic mutations in this patient.
RESULTS: A de novo mutation was identified in the tubulin 4a gene (TUBB4A), which has been recently reported to be associated with H-ABC. Although the patient did not show any neurological features suggesting H-ABC, such as extrapyramidal or cerebellar signs, radiological findings demonstrated the finding of cerebellar atrophy at the age of 36months.
CONCLUSION: This study suggested us the difficulty of clinical diagnosis for H-ABC early in the life of the patient, which makes predication of prognosis and genetic counseling difficult.
Keiko Shimojima; Akihisa Okumura; Mitsuru Ikeno; Akira Nishimura; Akira Saito; Hirotomo Saitsu; Naomichi Matsumoto; Toshiyuki Yamamoto
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-26
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-6-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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