Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/18:10376723 RIV/00064190:_____/18:N0000032

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Neurology

ISSN

0028-3878

e-ISSN

—

Svazek periodika

90

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

"E658"-"E663"

Kód UT WoS článku

000427814700003

EID výsledku v databázi Scopus

2-s2.0-85052623766