Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A

Asako Tamura, M.D.1), Atsushi Niwa, M.D.1), Yuichiro Ii, M.D., PhD1), Ryogen Sasaki, M.D., PhD1), Hidekazu Tomimoto, M.D., PhD1) and Hirotomo Saitsu, M.D., PhD2)

1)Department of Neurology, Mie University Graduate School of Medicine
2)Department of Human Genetics, Graduate School of Medicine, Yokohama City University

We describe a 34-year-old man with hypomyelination, hypogonadotropic hypogonadism, ataxia, and myopia without hypodontia. He was born to non-consanguineous parents, and had an elder brother who showed a similar phenotype. Laboratory studies demonstrated low level of LH, FSH and testosterone. MRI showed hypomyelination, atrophy of the cerebellum and the hypoplastic corpus callosum. Homozygous missensze mutation c.2350G>A (p.Gly784Ser) was found in POLR3A, which codes for the largest subunit of RNA polymerase III. Since PolIII-related leukodystrophies shows various combination of neurologic and non-neurologic features, additional reports will help to confirm the mechanism of this disease.
Full Text of this Article in Japanese PDF (3995K)

(CLINICA NEUROL, 53: 624|629, 2013)
key words: PolIII-related leukodystrophy, POLR3A gene, ataxia, hypomyelination, hypogonadotropic hypogonadism

(Received: 9-Nov-12)