Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.

摘要: The objective of this work is to report on a series five patients with adult-onset leukoencephalopathy neuroaxonal spheroids and pigmented glia (ALSP). ALSP rare leukodystrophy, which encompasses hereditary diffuse axonal pigmentary orthochromatic leukodystrophy. This was retrospective chart review literature review. Five previously healthy women presented rapidly progressive neurological disorder at ages 39, 37, 40, 30, 47, respectively. All individuals were initially diagnosed as suffering from multiple sclerosis. clinical courses the dominated by spastic quadriparesis (patient 5, newly diagnosed, has paraparesis time) dementia. Brain magnetic resonance imaging (MRI) showed cerebral atrophy, corpus callosal T2 hyperintensities in subcortical periventricular white matter no gadolinium enhancing lesions. Three involvement pyramidal tracts motor cortex brainstem. Cerebrospinal fluid normal all cases. Diagnosis established biopsy (two cases) autopsy cases). Histopathology presence four cases three. In fifth case, diagnosis genetic analysis alone that disease-causing mutation colony-stimulating factor 1 receptor (CSF1R) gene. Genetic done three available DNA, identified three, including novel F828S. may be suspected adults rapid subacute progression disease when (1) MRI shows atrophy background generalized brain without postcontrast enhancement, (2) CSF studies are normal, (3) for systemic inflammatory diseases specific leukodystrophies normal. made histopathological evidence demonstrated CSF1R