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Familial Adult‐Onset Alexander Disease with a Novel GFAP Mutation
Author(s) -
Ogura Hana,
Maki Futaba,
Sasaki Naoshi,
Yoshida Tomokatsu,
Hasegawa Yasuhiro
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12296
Subject(s) - pons , atrophy , medicine , brainstem , spinal cord , medulla oblongata , pathology , pediatrics , anatomy , psychiatry , central nervous system
The patient was a 65‐year‐old woman who became gradually more prone to falling from age 30 and who was visiting the hospital on an outpatient basis following a diagnosis of multiple system atrophy, cerebellar type. While eating, she started choking as a result of aspiration and was transported to our hospital by ambulance. Head magnetic resonance imaging ( MRI ) revealed tadpole‐like atrophy of the brainstem, i.e. marked atrophy of the medulla oblongata and cervical spinal cord with disproportionately slight atrophy of the pons. Her eldest son also had the same symptoms, suggesting Alexander disease. A search of the glial fibrillary acidic protein gene revealed the previously unreported mutation Y242N. The same MRI findings and genetic mutation were confirmed in her 38‐year‐old son. Adult onset Alexander disease is a rare condition with very few reported familial cases. We hereby report this case with a discussion of the literature.