Spastic Paraplegia-optic Atrophy-neuropathy Syndrome

Description

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Paraplegia-optic Atrophy-neuropathy Syndrome

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain
  • Cognitive impairment
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy
  • Dysarthria

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Spastic Paraplegia-optic Atrophy-neuropathy Syndrome Is also known as spoan, spg68, autosomal recessive spastic paraplegia type 68.

Researches and researchers

Doctors, researchs, and experts related to Spastic Paraplegia-optic Atrophy-neuropathy Syndrome extracted from public data.

Spastic Paraplegia-optic Atrophy-neuropathy Syndrome Experts map



Current Researchs and researchers

  • BORDEAUX — Pr Patrick BABIN

    Investigator of research project

    • Institution/s:
      — Université de Bordeaux, CHU de Bordeaux-GH Pellegrin
      — Université Bordeaux 1
    • Research area/topic::

      Zebrafish models for human motor neuron diseases and organophosphorus-induced delayed neuropathy


  • TALENCE — Pr Patrick BABIN

    Investigator of research project

    • Institution/s:
      — Université de Bordeaux, CHU de Bordeaux-GH Pellegrin
      — Université Bordeaux 1
    • Research area/topic::

      Zebrafish models for human motor neuron diseases and organophosphorus-induced delayed neuropathy



Mendelian

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Spastic Paraplegia-optic Atrophy-neuropathy Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
KLC2.

By Fulgent Genetics Fulgent Genetics (United States).

KLC2
Specificity
100 %
Genes
50 %
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
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
50 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RTN2, SACS, AIMP1, SLC16A2, SLC1A4, SLC25A15, SOD1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, STUB1, TARDBP, TFG, TH, UBQLN2, VAMP1, VAPB , (...)

View the complete list with 122 more genes
Specificity
1 %
Genes
50 %
FLRT1.

By Fulgent Genetics Fulgent Genetics (United States).

FLRT1
Specificity
100 %
Genes
50 %
SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

RTN2, SACS, SLC16A2, SPG11, ATL1, SPAST, SPG7, TFG, TTR, VCP, ERLIN2, CAPN1, BSCL2, PNPLA6, NFU1, ERLIN1, NIPA1, RAB3GAP2, BICD2, GJC2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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