Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F18%3A10376723" target="_blank" >RIV/00064165:_____/18:10376723 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/18:10376723 RIV/00064190:_____/18:N0000032
Result on the web
<a href="https://doi.org/10.1212/WNL.0000000000004999" target="_blank" >https://doi.org/10.1212/WNL.0000000000004999</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1212/WNL.0000000000004999" target="_blank" >10.1212/WNL.0000000000004999</a>
Alternative languages
Result language
angličtina
Original language name
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion
Original language description
Background: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in which a specific diagnosis cannot be made in a subset of patients, despite exhaustive investigation. C9orf72 repeat expansions are emerging as an important causal factor in several adult-onset neurodegenerative disorders, in particular frontotemporal lobar degeneration and amyotrophic lateral sclerosis. An association with PME has not been reported previously. Objective: To identify the causative mutation in a Belgian family where the proband had genetically unexplained PME. Results: We report a 33-year old woman who had epilepsy since the age of 15 and then developed progressive cognitive deterioration and multifocal myoclonus at the age of 18. The family history suggested autosomal dominant inheritance of psychiatric disorders, epilepsy, and dementia. Thorough workup for PME including whole exome sequencing did not reveal an underlying cause, but a C9orf72 repeat expansion was found in our patient and affected relatives. Brain biopsy confirmed the presence of characteristic p62-positive neuronal cytoplasmic inclusions. Conclusion: C9orf72 mutation analysis should be considered in patients with PME and psychiatric disorders or dementia, even when the onset is in late childhood or adolescence.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurology
ISSN
0028-3878
e-ISSN
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Volume of the periodical
90
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
"E658"-"E663"
UT code for WoS article
000427814700003
EID of the result in the Scopus database
2-s2.0-85052623766