Spinocerebellar Ataxia 4; Sca4

Description

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 4; Sca4

  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance
  • Cerebellar atrophy
  • Hyporeflexia
  • Areflexia
  • Babinski sign
  • Distal sensory impairment
  • Sensory neuropathy
And another 10 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.


Mendelian

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Spinocerebellar Ataxia 4; Sca4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Sequence analysis of PLEKHG4 gene.

By CGC Genetics in Portugal.

PLEKHG4
Specificity
100 %
Genes
100 %
Detection of c.-16C>T mutations on PLEKHG4 gene.

By CGC Genetics in Portugal.

PLEKHG4
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics in Portugal.

ABHD12, PRKCG, ELOVL4, POLG, AFG3L2, MTPAP, COQ8A, ABCB7, FXN, APTX, ATM, MRE11, MTTP, SACS, TTPA, CACNA1A, SETX, SYNE1, KCNA1, CACNB4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Spinocerebellar ataxia type 4, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

PLEKHG4
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 4 (SCA4): PLEKHG4 gene mutation analysis (C>T transition 5´UTR region).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PLEKHG4
Specificity
100 %
Genes
100 %
PLEKHG4.

By Fulgent Genetics Fulgent Genetics in United States.

PLEKHG4
Specificity
100 %
Genes
100 %

Alternate names

Spinocerebellar Ataxia 4; Sca4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy;sca4.



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