Spinocerebellar Ataxia Type 31

Description

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 31

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor

And another 12 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

Spinocerebellar Ataxia Type 31 Is also known as sca31, spinocerebellar ataxia, 16q22-linked.

Researches and researchers

Doctors, researchs, and experts related to Spinocerebellar Ataxia Type 31 extracted from public data.

Spinocerebellar Ataxia Type 31 Experts map



Current Researchs and researchers

  • ILLKIRCH-GRAFFENSTADEN — Dr Nicolas CHARLET-BERGUERAND

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
    • Research area/topic::

      RNA DISEASES: UNDERSTANDING THE CAUSES OF THE RNA GAIN OF FUNCTION DISEASES - FR


Spinocerebellar Ataxia Type 31 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 %
Spinocerebellar ataxia type 31.

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

BEAN1
Specificity
100 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal dominant and X-linked Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN10, ATXN2, ATXN7, SLC1A3, SPG7, SPTBN2, TBP, VAMP1, VLDLR, CACNA1A, CACNA1G, CACNB4, ELOVL4, NOP56, TGM6, TTBK2, CCDC88C, ELOVL5, BEAN1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
BEAN1.

By Fulgent Genetics Fulgent Genetics (United States).

BEAN1
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics (Finland).

SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
SPINOCEREBELLAR ATAXIA NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SPTBN2, STUB1, TWNK, TTPA, WWOX, CA8, CACNA1A, CACNA1G, ELOVL4, APTX, TGM6, COQ8A, SYNE1, PMPCA, CAMTA1, TDP1, GBA2, TTBK2, CCDC88C, TPP1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spinocerebellar ataxia panel.

By LifeLabs Genetics (Canada).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SPTBN2, TBP, VAMP1, CACNA1A, NOP56, TGM6, TTBK2, BEAN1, DNMT1, ATN1, AFG3L2, FGF14, IFRD1, ITPR1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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