Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10189502" target="_blank" >RIV/00216208:11110/13:10189502 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10189502

Výsledek na webu

<a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580793/" target="_blank" >http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580793/</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2174/157015913804999469" target="_blank" >10.2174/157015913804999469</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Popis výsledku v původním jazyce

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease. Until we dise

Název v anglickém jazyce

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)

Popis výsledku anglicky

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease. Until we dise

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Current Neuropharmacology

ISSN

1570-159X

e-ISSN

—

Svazek periodika

11

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

AE - Spojené arabské emiráty

Počet stran výsledku

21

Strana od-do

59-79

Kód UT WoS článku

000314365200009

EID výsledku v databázi Scopus

—