Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 (HDLS1)

Alias:

Hereditary Diffuse Leukoencephalopathy with Spheroids

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Alsp

Subcortical Gliosis of Neumann

Gpsc

Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids

Leukoencephalopathy, Diffuse Hereditary, with Spheroids 1

Familial Progressive Subcortical Gliosis

Hdls

Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia

Gliosis, Familial Progressive Subcortical

Pigmentary Orthochromatic Leukodystrophy

Familial Dementia, Neumann Type

Hdls1

Fpsg

Pold

Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant

Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Leukoencephalopathy, Diffuse Hereditary, with Spheroid

Dementia, Familial, Neumann Type

Familial Dementia Neumann Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1, also known as hereditary diffuse leukoencephalopathy with spheroids, is related to behavioral variant of frontotemporal dementia and anosognosia, and has symptoms including muscle rigidity, muscle spasticity and bradykinesia. An important gene associated with Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 is CSF1R (Colony Stimulating Factor 1 Receptor), and among its related pathways/superpathways are Primary ovarian insufficiency and Translation factors. The drugs Fludarabine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related phenotypes are seizure and dysarthria

Related ID：

MALACARDS：LKN033

OMIM：221820

MESH：D005911