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Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Orpha number ORPHA313808
Synonym(s) 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
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
ICD-10
  • E75.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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