Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1

Alternative Names

  • HDLS1
  • Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia
  • ALSP
  • Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant
  • Gliosis, Familial Progressive Subcortical
  • GPSC
  • Dementia, Familial, Neumann Type
  • Subcortical Gliosis of Neumann
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other disorders of the nervous system

OMIM Number

221820

Mode of Inheritance

Autosomal dominant

Gene Map Locus

5q32

Description

Hereditary diffuse leukoencephalopathy with spheroids-1 (HDLS1) is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
221820.1Saudi ArabiaFemale Ataxia; Muscle weaknessNM_001288705.3:c.1905G>THeterozygousAutosomal, DominantMonies et al. 2017
221820.2Saudi ArabiaFemale Microcephaly; SeizureNM_001288705.3:c.2512G>AHeterozygousAutosomal, DominantMonies et al. 2017
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