Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.

Tsepo GoerttlerLetizia ZanettiMaria RegoniKarl EggerElias Kellner Cornelius Deuschl Christoph KleinschnitzJenny SassoneStephan Klebe

Published in: Neurology. Genetics (2022)

We have found a new mutation that causes AOAD. We recommend that AOAD is included in the diagnostic workup in adult patients with gait ataxia and cerebellar and bulbar symptoms in association with a traumatic head injury.

Keyphrases

spinal cord injury
copy number
genome wide
early onset
cerebral palsy
sleep quality
gene expression
physical activity
depressive symptoms
dna methylation