Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.
Neurologist
; 22(6): 247-248, 2017 Nov.
Article
em En
| MEDLINE
| ID: mdl-29095329
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Tremor
/
Doença de Alexander
/
Mutação
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article