CSF1R-related adult-onset leukoencephalopathy with axonal spheroids (ALSP)
Autoszomális domináns
Changes in CSF1R cause white matter disease in adulthood with changes in behaviour and thinking, depression, and problems with movement and walking.
Mit változtat a diagnózis
Diagnosis can end a long search for a cause and allows referral to centres assessing treatments such as stem cell transplantation.
Vizsgált gének
Más néven
adult-onset leukodystrophy with neuroaxonal spheroids; Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; ALSP; autosomal dominant leukoencephalopathy with neuroaxonal spheroids; CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CSF1R-related ALSP; dementia, familial, Neumann type; familial progressive subcortical gliosis; FPSG; GPSC; HDLS; hereditary diffuse leukoencephalopathy with axonal spheroids; hereditary diffuse leukoencephalopathy with spheroids; neuroaxonal leukodystrophy; pigmentary orthochromatic leukodystrophy; POLD; subcortical gliosis of Neumann
