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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F13%3A10196762%21RIV14-MSM-11130___
rdf:type
skos:Concept n15:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1212/WNL.0b013e31827f0f66
dcterms:description
Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation. Methods: We documented clinical, neuroimaging, and morphologic data of 37 subjects from 27 families with PCH1. EXOSC3 gene sequencing was performed in 27 unrelated index patients of mixed ethnicity. Results: Biallelic mutations in EXOSC3 were detected in 10 of 27 families (37%). The most common mutation among all ethnic groups was c.395A>C, p.D132A, responsible for 11 (55%) of the 20 mutated alleles and ancestral in origin. The mutation-positive subjects typically presented with normal pregnancy, normal birth measurements, and relative preservation of brainstem and cortical structures. Psychomotor retardation was profound in all patients but lifespan was variable, with 3 subjects surviving beyond the late teens. Abnormal oculomotor function was commonly observed in patients surviving beyond the first year. Major clinical features previously reported in PCH1, including intrauterine abnormalities, postnatal hypoventilation and feeding difficulties, joint contractures, and neonatal death, were rarely observed inmutation-positive infants but were typical among themutation-negative subjects. Conclusion: EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype. Neurology (R) 2013;80:438-446 Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically stratify subjects in a large and well-defined cohort to define the clinical spectrum and genotype-phenotype correlation. Methods: We documented clinical, neuroimaging, and morphologic data of 37 subjects from 27 families with PCH1. EXOSC3 gene sequencing was performed in 27 unrelated index patients of mixed ethnicity. Results: Biallelic mutations in EXOSC3 were detected in 10 of 27 families (37%). The most common mutation among all ethnic groups was c.395A>C, p.D132A, responsible for 11 (55%) of the 20 mutated alleles and ancestral in origin. The mutation-positive subjects typically presented with normal pregnancy, normal birth measurements, and relative preservation of brainstem and cortical structures. Psychomotor retardation was profound in all patients but lifespan was variable, with 3 subjects surviving beyond the late teens. Abnormal oculomotor function was commonly observed in patients surviving beyond the first year. Major clinical features previously reported in PCH1, including intrauterine abnormalities, postnatal hypoventilation and feeding difficulties, joint contractures, and neonatal death, were rarely observed inmutation-positive infants but were typical among themutation-negative subjects. Conclusion: EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype. Neurology (R) 2013;80:438-446
dcterms:title
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
skos:prefLabel
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
skos:notation
RIV/00216208:11130/13:10196762!RIV14-MSM-11130___
n15:predkladatel
n17:orjk%3A11130
n3:aktivita
n9:I
n3:aktivity
I
n3:cisloPeriodika
5
n3:dodaniDat
n12:2014
n3:domaciTvurceVysledku
n14:8510210
n3:druhVysledku
n4:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n7:predkladatel
n3:idSjednocenehoVysledku
97155
n3:idVysledku
RIV/00216208:11130/13:10196762
n3:jazykVysledku
n5:eng
n3:klicovaSlova
involvement; degeneration; classification; onset; olivopontocerebellar hypoplasia; cerebellar hypoplasia; horn cell disease; spinal muscular-atrophy; werdnig-hoffmann disease
n3:klicoveSlovo
n10:involvement n10:classification n10:werdnig-hoffmann%20disease n10:horn%20cell%20disease n10:spinal%20muscular-atrophy n10:degeneration n10:onset n10:cerebellar%20hypoplasia n10:olivopontocerebellar%20hypoplasia
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[14A09CD7BFBA]
n3:nazevZdroje
Neurology
n3:obor
n19:FH
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
27
n3:rokUplatneniVysledku
n12:2013
n3:svazekPeriodika
80
n3:tvurceVysledku
Sztriha, Laszlo Seeman, Pavel Graul-Neumann, Luitgard Van Maldergem, Lionel Huebner, Christoph Seeger, Juergen Senderek, Jan Ryan, Monique M. Zerres, Klaus Schiff, Manuel Kirschner, Janbernd Steinlin, Maja Brockmann, Knut Barth, Peter Holzinger, Andreas Seidel, Ulrich Eggermann, Thomas Nelson, Stanley F. Colomer, Jaume Reardon, William Houge, Gunnar Rudnik-Schoeneborn, Sabine Puchmajerova, Alena Muntoni, Francesco Jen, Joanna C. Yourshaw, Michael Korinthenberg, Rudolf
n3:wos
000314159600011
s:issn
0028-3878
s:numberOfPages
9
n20:doi
10.1212/WNL.0b013e31827f0f66
n18:organizacniJednotka
11130