Does genetic anticipation occur in familial Alexander disease?
CK Hunt, A Al Khleifat, E Burchill, J Ederle… - neurogenetics, 2021 - Springer
Abstract Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations
of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present …
of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present …
Adult-onset Alexander disease: New causal sequence variant in the GFAP gene
T Goerttler, L Zanetti, M Regoni, K Egger… - Neurology …, 2022 - AAN Enterprises
Objectives Alexander disease (AD) is a rare disorder of the CNS. Diagnosis is based on
clinical symptoms, typical MRI findings, and mutations in the glial fibrillary acid protein …
clinical symptoms, typical MRI findings, and mutations in the glial fibrillary acid protein …
A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?
J Park, ST Park, J Kim, KY Kwon - BMC neurology, 2020 - Springer
Background Alexander disease is a rare neurological disease characterized by progressive
spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset …
spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset …
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
K Heshmatzad, N Naderi, T Masoumi… - European Journal of …, 2022 - Springer
Abstract Background Alexander disease (AxD) is a rare leukodystrophy with an autosomal
dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into …
dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into …