x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Disease definition

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.

ORPHA:313808

  • 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
  • OMIM: 221820
  • UMLS: C3711381
  • MeSH: -
  • GARD: 10981
  • MedDRA: -

Detailed information

Article for general public

Professionals

Additional information

Further information on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.