GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00843989:_____/17:E0106323
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD)
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10600 - Biological sciences
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Folia Neuropathologica
ISSN
1641-4640
e-ISSN
—
Volume of the periodical
55
Issue of the periodical within the volume
1
Country of publishing house
PL - POLAND
Number of pages
6
Pages from-to
67-72
UT code for WoS article
000398428500008
EID of the result in the Scopus database
2-s2.0-85017006279