Gerstmann-straussler Disease; Gsd

Description

Gerstmann-Straussler disease is a rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain (Gerstmann et al., 1936). Gerstmann-Straussler disease typically presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. GSD can be distinguished from CJD by earlier age at onset, longer disease duration, and prominent cerebellar ataxia (Masters et al., 1981).On the basis of clinical and pathologic criteria, Hsiao et al. (1989) suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs). However, these distinctions may only underscore the phenotypic variability in presentation and progression of the disease (Panegyres et al., 2001).PRNP-related amyloid angiopathy is usually not a feature of CJD, GSD, or FFI. However, PRNP-immunoreactive amyloid deposits within the walls of cerebral vessels have been observed in patients with truncating mutations in the PRNP gene. Data suggest that C-terminal-truncated PRNP proteins lacking the glycosylphosphatidylinositol (GPI) anchor required to attach the protein to the plasma membrane may readily form amyloid fibrils that result in cerebrovascular amyloid deposition (summary by Revesz et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Gerstmann-straussler Disease; Gsd

  • Pica
  • Ataxia
  • Cognitive impairment
  • Myopathy
  • Spasticity
  • Peripheral neuropathy
  • Pain
  • Dysarthria
  • Hyperreflexia
  • Gait disturbance
And another 53 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Gerstmann-straussler Disease; Gsd have a estimated incidence of 0.0055 per 100k in Europe.


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Gerstmann-straussler Disease; Gsd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Genetic Prion Diseases.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

PRNP
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRNP
Specificity
100 %
Genes
100 %
PRNP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

PRNP
Specificity
100 %
Genes
100 %
Familial Creutzfeldt-Jakob Disease (sequence analysis of PRNP gene).

By CGC Genetics in Portugal.

PRNP
Specificity
100 %
Genes
100 %
Gerstmann-Straussler disease (sequence analysis of PRNP gene).

By CGC Genetics in Portugal.

PRNP
Specificity
100 %
Genes
100 %
Huntington disease-like 1 (HDL1, CAG expansion on PRNP gene).

By CGC Genetics in Portugal.

PRNP
Specificity
100 %
Genes
100 %
Alzheimer disease (NGS panel for 8 genes).

By CGC Genetics in Portugal.

APP, PSEN1, SNCB, PSEN2, APOE, SNCA, PRNP, SORL1
Specificity
13 %
Genes
100 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Insomnia, fatal familial (sequence analysis of PRNP gene).

By CGC Genetics in Portugal.

PRNP
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
100 %
Insomnia, fatal familial (sequence analysis of PRNP gene).

By CGC Genetics in Portugal.

PRNP
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 %
PRNP.

By MGZ Medical Genetics Center in Germany.

PRNP
Specificity
100 %
Genes
100 %
Gerstmann-Straussler disease.

By Centogene AG - the Rare Disease Company in Germany.

PRNP
Specificity
100 %
Genes
100 %
Fatal familial imsomnia.

By Centogene AG - the Rare Disease Company in Germany.

PRNP
Specificity
100 %
Genes
100 %
Alzheimer dementia and dementia panel.

By Centogene AG - the Rare Disease Company in Germany.

APP, PSEN1, PSEN2, APOE, TREM2, PRNP, SORL1
Specificity
15 %
Genes
100 %
Huntington disease-like type 1.

By Centogene AG - the Rare Disease Company in Germany.

PRNP
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 %
Creutzfeldt-Jakob disease.

By Centogene AG - the Rare Disease Company in Germany.

PRNP
Specificity
100 %
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
Specificity
5 %
Genes
100 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Single gene testing PRNP.

By CeGaT GmbH in Germany.

PRNP
Specificity
100 %
Genes
100 %
PRNP - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

PRNP
Specificity
100 %
Genes
100 %
Genetic Prion Diseases (PRNP).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

PRNP
Specificity
100 %
Genes
100 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Invitae Hereditary Prion Disease Test.

By Invitae in United States.

PRNP
Specificity
100 %
Genes
100 %
Creutzfeldt-Jakob, Disease: PRNP gene sequence analysis.

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

PRNP
Specificity
100 %
Genes
100 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
PRNP.

By Fulgent Genetics Fulgent Genetics in United States.

PRNP
Specificity
100 %
Genes
100 %
WILSON-Complete.

By PentaCoreLab in Hungary.

ATP7B, PRNP
Specificity
50 %
Genes
100 %
Dementia Panel.

By Blueprint Genetics in Finland.

UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Creutzfeldt-Jakob disease.

By Bioarray in Spain.

PRNP
Specificity
100 %
Genes
100 %
Fatal familial insomnia.

By Bioarray in Spain.

PRNP
Specificity
100 %
Genes
100 %
Gerstmann-Straussler-Scheinker syndrome.

By Bioarray in Spain.

PRNP
Specificity
100 %
Genes
100 %
Huntington disease-like 1.

By Bioarray in Spain.

PRNP
Specificity
100 %
Genes
100 %
Prion Diseases (CJD/GSS/FFI) (PRNP gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

PRNP
Specificity
100 %
Genes
100 %
CREUZTFELDT-JACOB DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

PRNP
Specificity
100 %
Genes
100 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B
Specificity
8 %
Genes
100 %
Creutzfeldt-Jakob Disease, Sequencing PRNP Gene.

By Reference Laboratory Genetics in Spain.

PRNP
Specificity
100 %
Genes
100 %

Alternate names

Gerstmann-straussler Disease; Gsd Is also known as encephalopathy, subacute spongiform, gerstmann-straussler type, gerstmann-straussler-scheinker disease;gss, cerebellar ataxia, progressive dementia, and amyloid deposits in cns, amyloidosis, cerebral, with spongiform encephalopathy, prion dementia;subacute spongiform encephalopathy, gerstmann-straussler type.



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