Abstract:
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 mutations was performed in all family members by standard Sanger sequencing protocols. RESULTS:NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course. They did not have macular cherry-red spot and their urinary sialic acid excretion was within normal values. Genetic analysis demonstrated a homozygous mutation in family 1 (c.200G>T, p.S67I) and 2 compound heterozygous mutations in family 2 (c.679G>A, p.G227R; c.913C>T, p.R305C). CONCLUSIONS:Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.
journal_name
Neurologyjournal_title
Neurologyauthors
Canafoglia L,Robbiano A,Pareyson D,Panzica F,Nanetti L,Giovagnoli AR,Venerando A,Gellera C,Franceschetti S,Zara Fdoi
10.1212/WNL.0000000000000482subject
Has Abstractpub_date
2014-06-03 00:00:00pages
2003-6issue
22eissn
0028-3878issn
1526-632Xpii
WNL.0000000000000482journal_volume
82pub_type
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