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Condition report · Neurological

Adult-Onset Leukodystrophies

Inherited white matter conditions that usually begin in adulthood. They include CSF1R-related leukoencephalopathy with axonal spheroids (ALSP), LMNB1-related autosomal dominant leukodystrophy and Nasu-Hakola disease (TYROBP and TREM2).

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

CSF1R-related adult-onset leukoencephalopathy with axonal spheroids (ALSP)

Autosomal dominant

Changes in CSF1R cause white matter disease in adulthood with changes in behaviour and thinking, depression, and problems with movement and walking.

What a diagnosis changes

Diagnosis can end a long search for a cause and allows referral to centres assessing treatments such as stem cell transplantation.

Genes analysed

Also known as

adult-onset leukodystrophy with neuroaxonal spheroids; Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia; ALSP; autosomal dominant leukoencephalopathy with neuroaxonal spheroids; CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CSF1R-related ALSP; dementia, familial, Neumann type; familial progressive subcortical gliosis; FPSG; GPSC; HDLS; hereditary diffuse leukoencephalopathy with axonal spheroids; hereditary diffuse leukoencephalopathy with spheroids; neuroaxonal leukodystrophy; pigmentary orthochromatic leukodystrophy; POLD; subcortical gliosis of Neumann

MONDO:0800027OMIM 221820Orphanet 313808MedGen 1794139

LMNB1-related adult-onset autosomal dominant leukodystrophy

Autosomal dominant

Extra copies of LMNB1, or deletions near it, cause a slowly progressive leukodystrophy beginning in mid adulthood, often starting with bladder, bowel and blood pressure control problems followed by ataxia and spasticity.

Genes analysed

Also known as

ADLD; adult-onset autosomal dominant leukodystrophy; autosomal dominant adult-onset demyelinating leukodystrophy; autosomal dominant leukodystrophy with autonomic disease; multiple sclerosis-like disorder

Includes 2 related subtypes ↓
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
MONDO:0008215Orphanet 99027MedGen 356995

Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy)

Autosomal recessive

Changes in TYROBP or TREM2 cause bone cysts and fractures in young adulthood, followed by progressive changes in personality and memory.

Genes analysed

Also known as

Nasu-Hakola disease; NHD; PLO-SL; PLOSL; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Includes 2 related subtypes ↓
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
MONDO:0009092Orphanet 2770MedGen 387795

Limitations

  • LMNB1-related leukodystrophy is usually caused by a duplication of the gene or a deletion near it rather than a small change. Copy number changes are detected less reliably than small variants and may need confirmation by a targeted method.

Other neurological conditions

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