"T2: increased signal in"
"T1 C+ (Gd): enhancement may be seen in the same areas"
"T2/FLAIR: increased T2 signal (representing demyelination) and atrophy affecting multiple regions"
"T1 C+ (Gd): patchy enhancement uncommonly seen in adult patients"
"The condition is named after New Zealand pathologist William Stewart Alexander (1919-2013) who first described the condition in a 1949 case report 8."
"adult-onset (AOAD): >12 years"
"Childhood-onset Alexander disease"
"Juvenile/adult-onset Alexander disease"
"Most cases are sporadic. Familial disease has also been reported, however. A heterozygous mutation in the coding region, mapped to chromosome 17q21, of GFAP, an astrocyte-specific intermediate filament protein, is associated with most cases of infantile sporadic onset."
"Adult-onset Alexander disease (AOAD), which was only recognised with any frequency after GFAP was recognised as the mutation, has markedly different imaging findings and presentation."
"adult leukodystrophies (e.g. adrenomyeloneuropathy, LBSL, CSF1R-related leukoencephalopathy)"
Expected headings
"Classification"
"Childhood-onset Alexander disease"
"Clinical presentation"
"Pathology"
"Radiographic features"
"MRI"
"Juvenile/adult-onset Alexander disease"
"Clinical presentation"
"Pathology"
"Radiographic features"
"MRI"
"Adult-onset Alexander disease presents with prominent bulbar symptoms (dysphagia, dysphonia or dysarthria), pyramidal pattern of weakness and spasticity, cerebellar ataxia, symptomatic palatal tremor (palatal myoclonus), sleep disturbance, autonomic dysfunction, and/or neuropsychiatric symptoms 9,10,15."
"Adult-onset Alexander disease presents with prominent bulbar symptoms (dysphagia, dysphonia or dysarthria), pyramidal pattern of weakness and spasticity, cerebellar ataxia, symptomatic palatal tremor (palatal myoclonus), sleep disturbance, autonomic dysfunction, and/or neuropsychiatric symptoms 9,10,15."
"adult leukodystrophies (e.g. adrenomyeloneuropathy, LBSL, CSF1R-related leukoencephalopathy)"