Alexander disease

Handbook of Clinical Neurology
Albee Messing

Abstract

Alexander disease is a rare and generally fatal disorder of the central nervous system, originally defined by the distinctive neuropathology consisting of abundant Rosenthal fibers within the cytoplasm and processes of astrocytes. More recently, mutations in GFAP, encoding glial fibrillary acidic protein, the major intermediate filament protein of astrocytes, have been identified in nearly all patients. No other genetic causes have yet been identified. The precise mechanisms by which mutations lead to disease are poorly understood. Despite the genetic homogeneity, there are a wide range of clinical phenotypes. The genetic issues and the approach to diagnosis are the prime consideration in this chapter.

Citations

Aug 20, 2020·ASN Neuro·Albee Messing, Michael Brenner
Aug 23, 2020·International Journal of Molecular Sciences·Maryam GulAmmar Chaudhry
Sep 6, 2019·The Journal of Biological Chemistry·Michael R HeavenMichael Brenner
Nov 30, 2019·Frontiers in Neurology·Andrea CiammolaVincenzo Silani
Dec 17, 2019·Journal of Neurodevelopmental Disorders·Albee Messing
Aug 21, 2019·Glia·Carole EscartinMaria-Angeles Carrillo-de Sauvage
Jul 28, 2020·Redox Biology·Álvaro Viedma-PoyatosDolores Pérez-Sala
Feb 2, 2021·Continuum : Lifelong Learning in Neurology·John K Fink
Jun 22, 2021·Postgraduate Medicine·Chueh Lin HsuWojciech Kozubski
Jul 2, 2021·Nihon yakurigaku zasshi. Folia pharmacologica Japonica·Kozo SaitoSchuichi Koizumi
Dec 25, 2021·Frontiers in Genetics·Alice GrossiIsabella Ceccherini

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