GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F17%3A10362232" target="_blank" >RIV/00064165:_____/17:10362232 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00843989:_____/17:E0106323
Výsledek na webu
<a href="http://dx.doi.org/10.5114/fn.2017.66715" target="_blank" >http://dx.doi.org/10.5114/fn.2017.66715</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5114/fn.2017.66715" target="_blank" >10.5114/fn.2017.66715</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
Popis výsledku v původním jazyce
The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI. DNA was isolated from peripheral blood leukocytes and tested for GRN gene mutations. A pathogenic splice donor site mutation, c.708+1G>A, was found in the GRN gene. MRI showed unilateral caudate nucleus atrophy. This report extends the evidence for phenotypic and neuropathological heterogeneity in FTLD spectrum disorders due to splicing mutations in the GRN gene.
Název v anglickém jazyce
GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
Popis výsledku anglicky
The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI. DNA was isolated from peripheral blood leukocytes and tested for GRN gene mutations. A pathogenic splice donor site mutation, c.708+1G>A, was found in the GRN gene. MRI showed unilateral caudate nucleus atrophy. This report extends the evidence for phenotypic and neuropathological heterogeneity in FTLD spectrum disorders due to splicing mutations in the GRN gene.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
10600 - Biological sciences
Návaznosti výsledku
Projekt
—
Návaznosti
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Ostatní
Rok uplatnění
2017
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Folia Neuropathologica
ISSN
1641-4640
e-ISSN
—
Svazek periodika
55
Číslo periodika v rámci svazku
1
Stát vydavatele periodika
PL - Polská republika
Počet stran výsledku
6
Strana od-do
67-72
Kód UT WoS článku
000398428500008
EID výsledku v databázi Scopus
2-s2.0-85017006279