title: Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.
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.
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan. sekijima@shinshu-u.ac.jp
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.forename: Katsuya
authors.initials: K
authors.lastname: Nakamura
authors.forename: Dai
authors.initials: D
authors.lastname: Kishida
authors.forename: Aya
authors.initials: A
authors.lastname: Narita
authors.forename: Kaori
authors.initials: K
authors.lastname: Adachi
authors.forename: Kosaku
authors.initials: K
authors.lastname: Ohno
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000293:Adolescent; D018450:Disease Progression; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods* / Q000706:statistics & numerical data; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D009439:Neuraminidase / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D013997:Time Factors
chemical_list: C486385:NEU1 protein, human; D009439:Neuraminidase