Neonatal Alexander Disease : Novel GFAP Mutation and Comparison to Previously Published Cases

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http://hdl.handle.net/10138/309567

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Knuutinen , O , Kousi , M , Suo-Palosaari , M , Moilanen , J S , Tuominen , H , Vainionpää , L , Joensuu , T , Anttonen , A-K , Uusimaa , J , Lehesjoki , A-E & Vieira , P 2018 , ' Neonatal Alexander Disease : Novel GFAP Mutation and Comparison to Previously Published Cases ' , Neuropediatrics , vol. 49 , no. 4 , pp. 256-261 . https://doi.org/10.1055/s-0038-1649500

Title: Neonatal Alexander Disease : Novel GFAP Mutation and Comparison to Previously Published Cases
Author: Knuutinen, Oula; Kousi, Maria; Suo-Palosaari, Maria; Moilanen, Jukka S.; Tuominen, Hannu; Vainionpää, Leena; Joensuu, Tarja; Anttonen, Anna-Kaisa; Uusimaa, Johanna; Lehesjoki, Anna-Elina; Vieira, Päivi
Contributor: University of Helsinki, Neuroscience Center
University of Helsinki, Anna-Elina Lehesjoki / Principal Investigator
University of Helsinki, Research Programme for Molecular Neurology
Date: 2018-08
Language: eng
Number of pages: 6
Belongs to series: Neuropediatrics
ISSN: 0174-304X
URI: http://hdl.handle.net/10138/309567
Abstract: Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD. Genetic analysis of the proband identified a novel de novo GFAP missense mutation and a KCNQ2 splice site mutation segregating with the BFNE phenotype in the family. The GFAP mutation was located in the coil 2B region of GFAP protein, similar to most neonatal-onset AxD cases with an early death. The clinical and neuroradiological features of the previously published neonatal AxD patients are presented. This study further supports the classification of neonatal-onset AxD as a distinct phenotype based on the age of onset.
Subject: drug-resistant seizures
hydrocephalus
neuroimaging
leukodystrophy
FIBRILLARY ACIDIC PROTEIN
INFANTILE
DIAGNOSIS
PHENOTYPE
VARIANTS
GENE
FORM
3112 Neurosciences
3124 Neurology and psychiatry
3123 Gynaecology and paediatrics
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