Adult-onset Autosomal Dominant Leukodystrophy

Description

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

Clinical Features

Top most frequent phenotypes and symptoms related to Adult-onset Autosomal Dominant Leukodystrophy

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance

And another 59 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Adult-onset Autosomal Dominant Leukodystrophy Is also known as adld, adult-onset autosomal dominant demyelinating leukodystrophy, pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly.

Researches and researchers

Doctors, researchs, and experts related to Adult-onset Autosomal Dominant Leukodystrophy extracted from public data.

Adult-onset Autosomal Dominant Leukodystrophy Experts map



Current Researchs and researchers

  • GENOVA — Dr Laura GASPARINI

    Investigator of research project

    • Institution/s:
      — Istituto Italiano di Tecnologia
    • Research area/topic::

      Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models.



Mendelian

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Adult-onset Autosomal Dominant Leukodystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy, Adult-Onset, Autosomal Dominant.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

LMNB1
Specificity
100 %
Genes
100 %
Leukodystrophy demyelinating adult-onset, AD (sequence analysis of LMNB1 gene).

By CGC Genetics (Portugal).

LMNB1
Specificity
100 %
Genes
100 %
Leukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes).

By CGC Genetics (Portugal).

LMNB1
Specificity
100 %
Genes
100 %
Leukodystrophy (deletions/duplications analysis of LMNB1, NOTCH3 and PLP1 genes).

By CGC Genetics (Portugal).

LMNB1
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
adult-onset autosomal dominant Leukodystrophy.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München (Germany).

LMNB1
Specificity
100 %
Genes
100 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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