Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease.

[alexander disease]

Alexander disease (AxD ) is the only known human pathology caused by mutations in an astrocyte-specific gene , glial fibrillary acidic protein (GFAP ). These mutations result in abnormal GFAP accumulations that promote seizures , motor delays and , ultimately , death . The exact contribution of increased , abnormal levels of astrocytic mutant GFAP in the development and progression of the epileptic phenotype is not clear , and we addressed this question using two mouse models of AxD . Comparison of brain seizure activity spontaneously and after traumatic brain injury (TBI ), an effective way to trigger seizures , revealed that abnormal GFAP accumulation contributes to anomalous brain activity (increased non-convulsive hyperactivity ) but is not a risk factor for the development of epilepsy after TBI . These data highlight the need to further explore the complex and heterogeneous response of astrocytes towards injury and the involvement of GFAP in the progression of AxD .

Diseases
Validation

Diseases presenting "seizures" symptom

alexander disease

alpha-thalassemia

cadasil

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

legionellosis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated