Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene
Yoshiki SekijimaKatsuya NakamuraDai KishidaAya NaritaKaori AdachiKosaku OhnoEiji NanbaShu-ichi Ikeda
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JOURNALS OPEN ACCESS

2013 Volume 52 Issue 1 Pages 119-124

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Abstract

The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.

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© 2013 by The Japanese Society of Internal Medicine
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