Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2; Plosl2

Description

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005).For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see {221770}.

Clinical Features

Top most frequent phenotypes and symptoms related to Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2; Plosl2

  • Pain
  • Dementia
  • Leukemia
  • Gliosis
  • Peripheral demyelination
  • Bone pain
  • Leukoencephalopathy
  • Alzheimer disease
  • Basal ganglia calcification
  • Neurofibrillary tangles

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WARSAW BREAKAGE SYNDROME; WABS LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11