Logo do repositório
 
Publicação

Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care Situation

2025-09-29Artigo científico Acesso aberto
Ver registo simples
datacite.subject.sdg03:Saúde de Qualidade
datacite.subject.sdg04:Educação de Qualidade
datacite.subject.sdg10:Reduzir as Desigualdades
dc.contributor.authorKokaly, Nadia
dc.contributor.authorGuerreiro, Helena
dc.contributor.authorBredow, Janna
dc.contributor.authorDreha-Kulaczewski, Steffi
dc.contributor.authorOhlenbusch, Andreas
dc.contributor.authorKöhler, Wolfgang
dc.contributor.authorReinhardt, Tabea
dc.contributor.authorSchön, Gerhard
dc.contributor.authorVolk, Alexander E.
dc.contributor.authorSigel, Helen
dc.contributor.authorBley, Annette
dc.date.accessioned2026-03-18T10:26:15Z
dc.date.available2026-03-18T10:26:15Z
dc.date.issued2025-09-29
dc.description.abstractBackground: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improvement during their course of disease. Conclusions: The course of AxD is very heterogeneous. Thus, we extracted relevant key features to describe the severity of the disease, namely feeding problems, epilepsy, age-appropriate motor function, failure to thrive, age-appropriate language and apnoea. We recommend early evaluation for clinical care and support. For some AxD patients, treatment with steroids may alleviate symptoms. Further development of efficient treatments is necessaryeng
dc.identifier.doi10.3390/jcm14196918
dc.identifier.issn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.1/28460
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.ispartofJournal of Clinical Medicine
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAlexander disease
dc.subjectLeukodystrophy
dc.subjectAstrocytopathy
dc.subjectNeurodegeneration
dc.subjectNatural history
dc.subjectWhite matter
dc.subjectSeverity score
dc.subjectSteroids
dc.titleDescription of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care Situationeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue19
oaire.citation.startPage6918
oaire.citation.titleJournal of Clinical Medicine
oaire.citation.volume14
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameGuerreiro
person.givenNameHelena
person.identifier.orcid0000-0003-0221-8954
relation.isAuthorOfPublicationfc2490ae-1993-43b6-8e41-bf3d384ec489
relation.isAuthorOfPublication.latestForDiscoveryfc2490ae-1993-43b6-8e41-bf3d384ec489

Ficheiros

Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
3.46 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

FCB2-Artigos (em revistas ou actas indexadas)
ABC2-Artigos (em revistas ou actas indexadas)
ULS_10.1-MED-Artigos