Striatal Degeneration, Autosomal Dominant 1; Adsd1

Description

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). Genetic Heterogeneity of Autosomal Dominant Striatal DegenerationSee also ADSD2 (OMIM ), caused by mutation in the PDE10A gene (OMIM ) on chromosome 6q27.

Clinical Features

Top most frequent phenotypes and symptoms related to Striatal Degeneration, Autosomal Dominant 1; Adsd1

  • Dysarthria
  • Gait disturbance
  • Tremor
  • Dysphagia
  • Rigidity
  • Abnormality of movement
  • Parkinsonism
  • Bradykinesia
  • Trophic changes related to pain
  • Dysdiadochokinesis
And another 8 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.


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Striatal Degeneration, Autosomal Dominant 1; Adsd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary pigmented nodular adrenocortical disease type 3 (sequence analysis of PDE8B gene).

By CGC Genetics in Portugal.

PDE8B
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Autosomal-dominant striatal degeneration.

By Centogene AG - the Rare Disease Company in Germany.

PDE8B
Specificity
100 %
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 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
PIGMENTED NODULAR ADRENOCORTICAL DISEASE.

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

PDE11A, PDE8B
Specificity
50 %
Genes
100 %
Autism.

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

UBE3A, CACNA1F, MECP2, SLC25A12, ARX, PCDH19, CACNA1H, GABRB3, RELN, NRXN1, CNTNAP2, SHANK3, PTCHD1, FOXP2, CACNA1C, HOXA1, NLGN4X, NLGN3, RPL10, CNTN4 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
PDE8B.

By Fulgent Genetics Fulgent Genetics in United States.

PDE8B
Specificity
100 %
Genes
100 %
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3.

By Bioarray in Spain.

PDE8B
Specificity
100 %
Genes
100 %
Primary Pigmented Nodular Adrenocortical Disease Type 3 , Sequencing PDE8B Gene.

By Reference Laboratory Genetics in Spain.

PDE8B
Specificity
100 %
Genes
100 %
Primary Pigmented Nodular Adrenocortical Disease , Panel Massive Sequencing (NGS) PDE11A and PDE8B Genes.

By Reference Laboratory Genetics in Spain.

PDE11A, PDE8B
Specificity
50 %
Genes
100 %

Alternate names

Striatal Degeneration, Autosomal Dominant 1; Adsd1 Is also known as ;adsd.



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