Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor

The Neurologist
Jennifer M GassPaldeep S Atwal

Abstract

Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). This disorder can develop as an infantile, juvenile or adult-onset form and is characterized by several clinical features, including macrocephaly, seizures, ataxia, and bulbar/pseudobulbar signs. While the majority of these patients have the more progressive infantile form which causes severe leukodystrophy and early death; the less common adult form is more variable (ie, onset age, symptoms), with bulbar dysfunction as the primary feature. In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease.

References

Oct 24, 2003·Journal of Child Neurology·Anne B Johnson, Michael Brenner
Dec 21, 2005·Human Genetics·Rong LiMichael Brenner
Oct 27, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Tracy L HagemannAlbee Messing
Oct 27, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Katherine L HowardMichael Brenner
Aug 8, 2008·Brain : a Journal of Neurology·Davide PareysonMario Savoiardo

❮ Previous
Next ❯

Citations

Oct 27, 2020·Tremor and Other Hyperkinetic Movements·Shakya Bhattacharjee

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Alexander Disease

Alexander disease is a rare leukodystrophy caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research on this disease.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Related Papers

Movement Disorders : Official Journal of the Movement Disorder Society
Katherine L HowardM Brenner
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
Scott D SpritzerBrent P Goodman
Movement Disorders : Official Journal of the Movement Disorder Society
Dominic ThyagarajanMichael Brenner
© 2022 Meta ULC. All rights reserved