Spinocerebellar Ataxia Type 35

Description

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia Type 35

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Cerebellar atrophy
  • Intellectual disability, mild

And another 21 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 35 Is also known as sca35.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spinocerebellar Ataxia Type 35 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Supplemental Dominant Evaluation.

By Athena Diagnostics Inc (United States).

SLC1A3, SPTBN2, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PRKCG
Specificity
7 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
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 35, AD (SCA35, sequence analysis of TGM6 gene).

By CGC Genetics (Portugal).

TGM6
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
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 %

You can get up to 12 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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