Clinical characteristics of Alexander disease-Reference-Cited by-同舟云学术

Clinical characteristics of Alexander disease

Published:2020-10 Issue:5 Volume:10 Page:325-333
ISSN:1758-2024
Container-title:Neurodegenerative Disease Management
language:en
Short-container-title:Neurodegenerative Disease Management

Author:

Yoshida Tomokatsu¹^ORCID

Affiliation:

1. Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan

Abstract

Alexander disease (ALXDRD) is a primary astrocyte disease caused by GFAP gene mutation. The clinical features of ALXDRD vary from infantile-onset cerebral white matter involvement to adult-onset brainstem involvement. Several studies revealed that the level of GFAP overexpression is correlated with disease severity, and basic research on therapies to reduce abnormal GFAP accumulation has recently been published. Therefore, the accumulation of clinical data to advance understanding of the natural history is essential for clinical trials expected in the future. This review focuses on the clinical characteristics of ALXDRD including the clinical symptoms, imaging findings and genetics to provide diagnostic information useful in daily clinical practice.

Publisher

Future Medicine Ltd

Subject

Neurology (clinical)

Link

https://www.futuremedicine.com/doi/pdf/10.2217/nmt-2020-0022

Reference53 articles.

1. PROGRESSIVE FIBRINOID DEGENERATION OF FIBRILLARY ASTROCYTES ASSOCIATED WITH MENTAL RETARDATION IN A HYDROCEPHALIC INFANT

2. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

3. Autosomal dominant palatal myoclonus and spinal cord atrophy

4. Identification ofGFAP gene mutation in hereditary adult-onset Alexander's disease

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