Spinocerebellar Ataxia 17; Sca17

Description

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD ). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 17; Sca17

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dysphagia
  • Cerebellar atrophy

And another 47 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 17; Sca17 Is also known as hdl4, huntington disease-like 4.

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 17; Sca17 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA17 (TBP) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

TBP
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
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, 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 %
Spinocerebellar ataxia 17.

By Center for Human Genetics, Inc (United States).

TBP
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 17.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

TBP
Specificity
100 %
Genes
100 %
Ataxia Repeat Expansion Panel.

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

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATN1, FXN, ATXN3, PPP2R2B
Specificity
10 %
Genes
100 %
Spinocerebellar ataxia 17.

By Human Genetics University Hospital Bern (Switzerland).

TBP
Specificity
100 %
Genes
100 %

You can get up to 31 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 3; VWD3 FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1