Publication date: Available online 21 March 2018
Source:Brain and Development
Author(s): Ayumi Matsumoto, Janyerkye Tulyeu, Rieko Furukawa, Chika Watanabe, Yukifumi Monden, Yasuyuki Nozaki, Masato Mori, Michito Namekawa, Eriko F. Jimbo, Toshinori Aihara, Takanori Yamagata, Hitoshi Osaka
Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed independent sharp waves in the right and left temporal area. Magnetic resonance imaging showed high intensity T1-weighted images in the white matter of the frontal lobe and basal ganglia. He showed no head control at 4 years of age, and his weight gain was insufficient. He did not show macrocephaly. At 4 years of age, he died of bacterial pneumonia and septic shock. He was diagnosed with AxD, and direct sequencing revealed a de novo known mutation, c. 239 T > C, p.(F80S), in GFAP. Hela and U2-OS cells transfected with GFAP cDNA with c. 239 T > C showed dot-like cytoplasmic aggregation, similar to R239C, a common mutation found in severe infantile AxD. Aggregation in the cytoplasm caused by a GFAP mutation is a hallmark of AxD. Although there is only one previous report of a patient with an F80S mutation, our data support that F80S can cause the severe, infantile form of AxD.
http://ift.tt/2IKc30a
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
Ετικέτες
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
-
Summary Insulinomas are rare neuroendocrine tumours that classically present with fasting hypoglycaemia. This case report discusses an un...
-
The online platform for Taylor & Francis Online content New for Canadian Journal of Remote Sen...
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου