Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

Sekijima Yoshiki, Nakamura Katsuya, Kishida Dai, Narita Aya, Adachi Kaori, Ohno Kosaku, Nanba Eiji, Ikeda Shu-Ichi

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease Progression
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Monitoring, Physiologic

Share to Mucolipidoses

Share to Mutation, Missense

Share to Neuraminidase

Source

Identifiers

PMID: 23291686
DOI: 10.2169/internalmedicine.52.8901

Genes

NEU1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.PMID 23291686Read ↗

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 geneSemantic proximity Read ↗

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.Semantic proximity Read ↗

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.Semantic proximity Read ↗

Molecular pathology of NEU1 gene in sialidosis.Semantic proximity Read ↗

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Semantic proximity Read ↗

Genetic Insights and Clinical Implications of NEU1 Mutations in SialidosisSemantic proximity Read ↗

Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.Semantic proximity Read ↗

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvementSemantic proximity Read ↗

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature ReviewSemantic proximity Read ↗

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.Semantic proximity Read ↗

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.Semantic proximity Read ↗

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.