Publication:
Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

dc.contributor.authorGuler S.
dc.contributor.authorAslanger A. D.
dc.contributor.authorUygur Sahin T.
dc.contributor.authorAlkan A.
dc.contributor.authorYalcinkaya C.
dc.contributor.authorSaltik S.
dc.contributor.authorYesil G.
dc.contributor.institutionauthorALKAN, ALPAY
dc.date.accessioned2024-07-11T21:50:14Z
dc.date.available2024-07-11T21:50:14Z
dc.date.issued2024-06-06
dc.description.abstractBackground: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. Methods: Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. Results: Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. Conclusions: Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.
dc.identifier.citationGuler S., Aslanger A. D., Uygur Sahin T., Alkan A., Yalcinkaya C., Saltik S., Yesil G., "Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.", Pediatric neurology, cilt.158, ss.1-10, 2024
dc.identifier.doi10.1016/j.pediatrneurol.2024.05.017
dc.identifier.endpage10
dc.identifier.issn0887-8994
dc.identifier.pubmed38925092
dc.identifier.scopus85196632831
dc.identifier.startpage1
dc.identifier.urihttps://hdl.handle.net/20.500.12645/39445
dc.identifier.volume158
dc.identifier.wosWOS:001257147700001
dc.relation.ispartofPediatric neurology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCLP1
dc.subjectPCH10
dc.subjectPontocerebellar hypoplasia
dc.subjectProgressive microcephaly
dc.subjectStructural brain anomalies
dc.titleLong-Term Disease Course of Pontocerebellar Hypoplasia Type 10.
dc.typeArticle
dspace.entity.typePublication
local.avesis.id44bdb39f-7f86-44a0-a043-a55f4e4bc98c
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus
relation.isAuthorOfPublicationea0f4848-264f-435e-8d73-0f1ca4814d4a
relation.isAuthorOfPublication.latestForDiscoveryea0f4848-264f-435e-8d73-0f1ca4814d4a

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