Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

[alexander disease]

In this report , we describe the case of a new Japanese family (32 to 64 years old ; 2 females and 1 male ) affected by adult-onset Alexander disease . Clinically , one member (age at onset , 56 years old ) developed cerebellar ataxia , another (age at onset , 55 years old ) showed cerebellar ataxia and pseudobulbar signs , and one member (32 years old ) was asymptomatic . Marked atrophy of the medulla oblongata and spinal cord was detected in the two symptomatic patients by magnetic resonance imaging (MRI ). However , in the asymptomatic patient , cervicomedullary atrophy was mild . Hyperintensity signals in the medulla oblongata were detected in the two symptomatic patients , but not in the asymptomatic patient . In addition , there are symmetrical hyperintensity signals in the posterior part of the globus pallidus on T 2 -weighted images in the two symptomatic patients , which are rarely observed in adult-onset Alexander disease . Molecular genetic analysis revealed a novel missense mutation (p . D 78 N ) in the glial fibrillary acidic protein (GFAP ) gene in this family . The typical atrophy of the medulla oblongata and upper cervical cord detected by MRI is the diagnostic feature of adult-onset Alexander disease . Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings . Additionally , these characteristic MRI patterns might even lead to the identification of asymptomatic cases , as in one of our cases .

Diseases
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Diseases presenting "atrophy of the medulla oblongata" symptom

alexander disease

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