Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F21%3AN0000044" target="_blank" >RIV/00064190:_____/21:N0000044 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11120/21:43921849 RIV/00216208:11110/21:10429994 RIV/00064165:_____/21:10429994 RIV/00064173:_____/21:N0000147

Výsledek na webu

<a href="http://dx.doi.org/10.3390/diagnostics11081365" target="_blank" >http://dx.doi.org/10.3390/diagnostics11081365</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/diagnostics11081365" target="_blank" >10.3390/diagnostics11081365</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Popis výsledku v původním jazyce

Despite an early understanding of amyotrophic lateral sclerosis (ALS) as a disease affecting the motor system, including motoneurons in the motor cortex, brainstem, and spinal cord, today, many cases involving dementia and behavioral disorders are reported. Therefore, we currently divide ALS not only based on genetic predisposition into the most common sporadic variant (90% of cases) and the familial variant (10%), but also based on cognitive and/or behavioral symptoms, with five specific subgroups of clinical manifestation-ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, the fully developed behavioral variant of frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer's disease (AD). Generally, these cases are referred to as amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD). Clinical behaviors and the presence of the same pathognomonic deposits suggest that FTLD and ALS could be a continuum of one entity. This review was designed primarily to compare neuropathological findings in different types of ALS relative to their characteristic locations as well as the immunoreactivity of the inclusions, and thus, foster a better understanding of the immunoreactivity, distribution, and morphology of the pathological deposits in relation to genetic mutations, which can be useful in specifying the final diagnosis.

Název v anglickém jazyce

Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing

Popis výsledku anglicky

Despite an early understanding of amyotrophic lateral sclerosis (ALS) as a disease affecting the motor system, including motoneurons in the motor cortex, brainstem, and spinal cord, today, many cases involving dementia and behavioral disorders are reported. Therefore, we currently divide ALS not only based on genetic predisposition into the most common sporadic variant (90% of cases) and the familial variant (10%), but also based on cognitive and/or behavioral symptoms, with five specific subgroups of clinical manifestation-ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, the fully developed behavioral variant of frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer's disease (AD). Generally, these cases are referred to as amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD). Clinical behaviors and the presence of the same pathognomonic deposits suggest that FTLD and ALS could be a continuum of one entity. This review was designed primarily to compare neuropathological findings in different types of ALS relative to their characteristic locations as well as the immunoreactivity of the inclusions, and thus, foster a better understanding of the immunoreactivity, distribution, and morphology of the pathological deposits in relation to genetic mutations, which can be useful in specifying the final diagnosis.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30218 - General and internal medicine

Projekt

<a href="/cs/project/NV19-04-00090" target="_blank" >NV19-04-00090: Překrývání neurodegenerativních demencí a jejich klinickopatologické korelace: prospektivně-retrospektivní multicentrická studie</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2021

Kód důvěrnosti údajů

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

Název periodika

DIAGNOSTICS

ISSN

2075-4418

e-ISSN

2075-4418

Svazek periodika

11

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

18

Strana od-do

Article Number 1365

Kód UT WoS článku

000688895300001

EID výsledku v databázi Scopus

2-s2.0-85112017018