Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

ABSTRACT:

Objective

To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B.

Methods

We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases.

Results

The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. Other than the typical neurologic, dental, and endocrine features, myopia was seen in almost all and short stature in 50%. Dental and hormonal findings were not invariabl

SUBMITTER: Wolf NI 

PROVIDER: S-EPMC4248461 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature