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Article

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology - 3 Jun 2014

Canafoglia Laura, Robbiano Angela, Pareyson Davide, Panzica Ferruccio, Nanetti Lorenzo, Giovagnoli Anna Rita, Venerando Anna, Gellera Cinzia, Franceschetti Silvana, Zara Federico

Abstract excerpt

OBJECTIVE: To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. METHODS: Exome sequencing was performed in the probands using an Illumina platform. Segregation analysis of putative...

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Source

Identifiers

PMID: 24808020
DOI: 10.1212/WNL.0000000000000482

Genes

NEU1

Variants

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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.

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