Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP

• Published in: Clinical neurology and neurosurgery Vol. 195; p. 105893
• Main Authors: Vázquez-Justes, D., Peñalva-García, J., López, R., Mitjana, R., Begue, R., González-Mingot, C.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.08.2020; Elsevier Limited
• Subjects: Adult onset Alexander disease; Age; Alexander's disease; Ataxia; Atrophy; Basal ganglia; Brain diseases; Brain MRI; Central nervous system; Central nervous system diseases; Dysarthria; Dysphagia; Fibers; Gait; Genotype & phenotype; Genotypes; Glial fibrillary acidic protein; Leukodystrophy; Motor task performance; Movement disorders; Mutation; Nervous system; Neurogenetics; Neurological disorders; Neurology; Neurosurgery; Phenotypes; Spinal cord; Neurogenetics; Adult onset Alexander disease; Brain MRI
• ISSN: 0303-8467; 1872-6968; 1872-6968
• DOI: 10.1016/j.clineuro.2020.105893

1 Introduction Alexander disease (AxD) is a rare leukodystrophy caused by mutations in the GFAP gene; which leads to the accumulation of “intracytoplasmatic astrocytic inclusions” (also known as “Rosenthal fibers”) in the central nervous system. [...]pathological Rosenthal fibers have previously been found in regions involved in motor control such as among olivary neurons [2]. Additional research is required in order to confirm the relationship between this new phenotype and genotype.Appendix A Supplementary data Supplementary material related to this article can be found, in the online version, at doi:https://doi.org/10.1016/j.clineuro.2020.105893.Appendix A Supplementary data The following are Supplementary data to this article: