Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

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Name:
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Description:
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
ORPHAcode:
313808
Synonyms:
ALSP
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
FPSG
Familial dementia, Neumann type
Familial progressive subcortical gliosis
GPSC
HDLS
Hereditary diffuse leukoencephalopathy with spheroids
POLD
Pigmentary orthochromatic leukodystrophy
Subcortical gliosis of Neumann
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14