TY - JOUR
T1 - Novel GFAP Variant in Adult-onset Alexander Disease with Progressive Ataxia and Palatal Tremor
AU - Gass, Jennifer M.
AU - Cheema, Anvir
AU - Jackson, Jessica
AU - Blackburn, Patrick R.
AU - Van Gerpen, Jay
AU - Atwal, Paldeep S.
N1 - Publisher Copyright:
© 2017 The Author(s).
PY - 2017
Y1 - 2017
N2 - Introduction: 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. Case Report: In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. Conclusions: Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease.
AB - Introduction: 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. Case Report: In our investigation, we describe a patient with progressive neuromuscular issues including dyspnea, dysphagia, dysarthria and progressive ataxia with palatal tremor. Conclusions: Through genetic testing, we determined that our patient has a novel variant in GFAP typical of Alexander disease.
KW - Alexander disease
KW - GFAP variant
KW - progressive ataxia with palatal tremor
KW - syncope
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U2 - 10.1097/NRL.0000000000000153
DO - 10.1097/NRL.0000000000000153
M3 - Article
C2 - 29095329
AN - SCOPUS:85033241110
SN - 1074-7931
VL - 22
SP - 247
EP - 248
JO - Neurologist
JF - Neurologist
IS - 6
ER -