Neonatal Alexander disease : novel GFAP mutation and comparison to previously published cases
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 (2018-05-25)
Knuutinen, O., Kousi, M., Suo-Palosaari, M., Moilanen, J., Tuominen, H., Vainionpää, L., … Vieira, P. (2018). Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases. Neuropediatrics, 49(4), 256–261. https://doi.org/10.1055/s-0038-1649500
© 2018 Georg Thieme Verlag KG, Stuttgart · New York
https://rightsstatements.org/vocab/InC/1.0/
https://urn.fi/URN:NBN:fi-fe202001081465
Tiivistelmä
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.
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