FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A9981" target="_blank" >RIV/00216208:11110/11:9981 - isvavai.cz</a>

Alternative codes found

RIV/00064190:_____/11:#0000224 RIV/00216208:11130/11:7065 RIV/00064203:_____/11:7065 RIV/00159816:_____/11:#0000898

Result on the web

<a href="http://dx.doi.org/10.1186/1471-2377-11-50" target="_blank" >http://dx.doi.org/10.1186/1471-2377-11-50</a>

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

Original language description

Frontotemporal lobar degeneration with ubiquitin and TDP-43 positive neuronal inclusions represents a novel entity (FTLD-TDP) that may be associated with motor neuron disease (FTLD-MND). We present three cases with similar clinical symptoms, including Parkinsonism, supranuclear gaze palsy, visuospatial impairment and a behavioral variant of FTD, associated with either clinically possible or definite MND. Neuropathological examination revealed hallmarks of FTLD-TDP with major involvement of subcortical and mesencephalic structures. Two cases were sporadic, whereas the third case had a pathological variation in the progranulin gene 102delC. Association of a "progressive supranuclear palsy-like" syndrome with marked visuospatial impairment, motor neuron disease and early behavioral disturbances may represent a clinically distinct phenotype of FTLD-TDP. Our observations further support the concept that TDP-43 proteinopathies represent a spectrum of disorders, where preferential localizatio

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

—

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

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

Name of the periodical

BMC Neurology

ISSN

1471-2377

e-ISSN

—

Volume of the periodical

11

Issue of the periodical within the volume

—

Country of publishing house

GB - UNITED KINGDOM

Number of pages

11

Pages from-to

1-11

UT code for WoS article

000291538200001

EID of the result in the Scopus database

—