A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A

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 sho...

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Bibliographic Details
Published in:	Rinsho shinkeigaku = Clinical neurology Vol. 53; no. 8; p. 624
Main Authors:	Tamura, Asako, Niwa, Atsushi, Ii, Yuichiro, Sasaki, Ryogen, Tomimoto, Hidekazu, Saitsu, Hirotomo
Format:	Journal Article
Language:	Japanese
Published:	Japan 01-08-2013
Subjects:	Adult Humans Male Mutation Pelizaeus-Merzbacher Disease - genetics RNA Polymerase III - genetics
Online Access:	Get more information
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Summary:	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.
ISSN:	1882-0654
DOI:	10.5692/clinicalneurol.53.624