Abstract:
OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay or intellectual disability, ataxia, and spasticity were frequent symptoms. POLR3A and POLR3B were sequenced. A compound heterozygote mutation in POLR3B was found in only one patient. Additional investigations allowed a definitive diagnosis in 10 patients. CONCLUSION:Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination, and alternative diagnoses should be considered first.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Cayami FK,La Piana R,van Spaendonk RM,Nickel M,Bley A,Guerrero K,Tran LT,van der Knaap MS,Bernard G,Wolf NIdoi
10.1055/s-0035-1550148subject
Has Abstractpub_date
2015-06-01 00:00:00pages
221-8issue
3eissn
0174-304Xissn
1439-1899journal_volume
46pub_type
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