Striatal Degeneration, Autosomal Dominant 2; Adsd2

Description

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).For a discussion of genetic heterogeneity of ADSD, see ADSD1 (OMIM ).

Genes related to Striatal Degeneration, Autosomal Dominant 2; Adsd2

PDE10A

Clinical Features

Phenotypes and symptoms related to Striatal Degeneration, Autosomal Dominant 2; Adsd2

Intellectual disability
Mental deterioration
Anxiety
Parkinsonism
Chorea
Parkinsonism with favorable response to dopaminergic medication
Abnormal corpus striatum morphology
Striatal T2 hyperintensity

Incidence and onset information

— Not enough data available about incidence and published cases.

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Striatal Degeneration, Autosomal Dominant 2; Adsd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autsim Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...) View the complete list with 87 more genes Panel GTR000528547 complete gene list FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, RBFOX1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, AFF2, UBE2A, RPL10, SNRPN, MAGEL2, SMARCB1, SLC9A9, PCDH9, GRPR, DPP6, DPP10, DLGAP2, CNTNAP5, ZNHIT6, ZNF804A, ZNF507, STK3, ST7, SOX5, SMG6, SATB2, PON3, PIP5K1B, PDE10A, NEGR1, KLHL3, KCTD13, KATNAL2, IMMP2L, GNA14, GABRG1, DOCK4, AUTS2, SLC6A4, BDNF, AVPR1A, NR1I3 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 Panel GTR000522458 complete gene list FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, TAF1, C19orf12, FTL, PDE10A, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, SLC30A10, EIF4G1, PDE8B, PODXL, DNAJC13, CHCHD2, PRKAR1B, RAB29, ASNA1, VPS13C, TENM4 Specificity 3 % Genes 100 %
Choreatic Movement Disorders Panel. By CeGaT GmbH in Germany. HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L , (...) View the complete list with 1 more genes Panel GTR000522464 complete gene list HTT, OPA3, GM2A, ATXN1, ATM, C9orf72, ATXN2, ATXN3, ATXN7, TBP, KCNA1, GNAO1, NKX2-1, JPH3, FTL, PDE10A, PRNP, ADCY5, RNF216, FRRS1L, ARHGEF2 Specificity 5 % Genes 100 %
Autism NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...) View the complete list with 80 more genes Panel GTR000509342 complete gene list FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, RBFOX1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, NTNG1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, RPL10, SNRPN, SLC9A9, PCDH9, GRPR, DPP6, DPP10, DLGAP2, CNTNAP5, ZNHIT6, ZNF804A, ZNF507, STK3, ST7, SOX5, SMG6, SATB2, PON3, PIP5K1B, PDE10A, NEGR1, KLHL3, KCTD13, KATNAL2, IMMP2L, GNA14, GABRG1, DOCK4, AUTS2, SLC6A4, BDNF, AVPR1A Specificity 1 % Genes 100 %
PDE10A. By Fulgent Genetics Fulgent Genetics in United States. PDE10A Specificity 100 % Genes 100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes. By Reference Laboratory Genetics in Spain. FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...) View the complete list with 57 more genes Panel GTR000559901 complete gene list FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2, SMC1A, TSC1, NIPBL, NSD1, MET, SCN1A, SPAST, L1CAM, GABRB3, SCN2A, FOLR1, GRIN2B, MBD5, PQBP1, RELN, PAFAH1B1, NRXN1, ANKRD11, PNKP, TCF4, CNTNAP2, ATRX, FGD1, PHF6, KDM5C, OPHN1, CASK, RAB39B, ZEB2, VPS13B, SHANK3, SHANK2, PTCHD1, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, NLGN4X, NLGN3, RPL10, SNRPN, SLC9A9, DPP6, SOX5, SATB2, PDE10A, KLHL3, AUTS2, SLC6A4, BDNF Specificity 2 % Genes 100 %

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