Spinocerebellar Ataxia Type 36

Description

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 36

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance

And another 36 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.

Alternative names

Spinocerebellar Ataxia Type 36 Is also known as sca36, asidan.

Researches and researchers

Doctors, researchs, and experts related to Spinocerebellar Ataxia Type 36 extracted from public data.

Spinocerebellar Ataxia Type 36 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 36 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NOP56. GGCCTG expansion detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NOP56
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia 36 (SCA36, GGCCTG expansion on NOP56 gene).

By CGC Genetics (Portugal).

NOP56
Specificity
100 %
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 %
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
100 %
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA).

By MNG Laboratories (Medical Neurogenetics, LLC.) (United States).

ATXN1, ATXN10, ATXN2, ATXN7, TBP, CACNA1A, NOP56, ATN1, ATXN8, ATXN3, PPP2R2B
Specificity
10 %
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 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC (Estonia).

SACS, SLC9A1, SLC9A6, SPTBN2, STUB1, TWNK, ACO2, TTPA, WFS1, WWOX, ATP8A2, ELOVL4, NPC2, CASK, SNX14, ABHD12, NOP56, APTX, TGM6, PNPLA6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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