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• Vol.53 No.8
• CLINICA NEUROL, 53: 624−629, 2013
• Vol.53 No.8 contents

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)