Supranuclear Palsy, Progressive, 1; Psnp1

Description

Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD ), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (OMIM ) should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Progressive Supranuclear PalsyOther loci for PSP have been mapped to chromosome 1q31 (PSNP2 ) and 11p12-p11 (PSNP3 ).See also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Supranuclear Palsy, Progressive, 1; Psnp1

  • Seizures
  • Pica
  • Milia
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tics
  • Gait disturbance
  • Tremor
  • Dysphagia
And another 49 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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Supranuclear Palsy, Progressive, 1; Psnp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MAPT DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Dementia (FTD) Evaluation.

By Athena Diagnostics Inc in United States.

GRN, MAPT, C9orf72
Specificity
34 %
Genes
100 %
Frontotemporal Dementia (FTDP) - MAPT Gene, Exon 10 Only.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Dementia w/ Parkinsonism (FTDP) - MAPT Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

MAPT
Specificity
100 %
Genes
100 %
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 %
Movement Disorders Panel.

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

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

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

POLG, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, ATP13A2, TAF1, CSF1R, FBXO7, SLC6A3, VPS35
Specificity
6 %
Genes
100 %
MAPT. Complete sequencing.

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

MAPT
Specificity
100 %
Genes
100 %
GRN, MAPT. MLPA testing (exons 1,3,6,10 and 12 gene GRN and exons 2 to 13 gene MAPT).

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

GRN, MAPT
Specificity
50 %
Genes
100 %
MAPT. Complete sequencing.

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

MAPT
Specificity
100 %
Genes
100 %
MAPT. Sequencing of the exons 1, 9, 10, 11, 12 and 13.

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

MAPT
Specificity
100 %
Genes
100 %
MAPT. Sequencing of the exons 1, 9, 10, 11, 12 and 13.

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

MAPT
Specificity
100 %
Genes
100 %
MAPT, GRN. MLPA testing.

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

GRN, MAPT
Specificity
50 %
Genes
100 %
Frontotemporal Dementia (sequence analysis of MAPT gene).

By CGC Genetics in Portugal.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PSEN1, VCP, GRN, MAPT, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A
Specificity
8 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics in Portugal.

POLG, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PSEN1, OPTN, VCP, GRN, SQSTM1, SOD1, PSEN2, MAPT, C9orf72, KIF5A, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, TREM2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Frontotemporal Dementia via the MAPT Gene.

By PreventionGenetics PreventionGenetics in United States.

MAPT
Specificity
100 %
Genes
100 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PARK7, PINK1, PRKN, GBA, PLA2G6, MAPT, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, RAB39B, TAF1, FBXO7, SLC6A3, VPS35, DNAJC6
Specificity
6 %
Genes
100 %
Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYROBP, APP, PSEN1, GRN, SQSTM1, PSEN2, MAPT, C9orf72, FUS, CHMP2B, TARDBP, UBQLN2, TREM2
Specificity
8 %
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 %
FTD - ALS panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP, SMPD1, GRN, SOD1, NPC1, NPC2, FIG4, MAPT, ALS2, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB
Specificity
7 %
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 %
Dementia, frontotemporal.

By Centogene AG - the Rare Disease Company in Germany.

MAPT
Specificity
100 %
Genes
100 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Amyotrophic Lateral Sclerosis NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...)

View the complete list with 34 more genes
Specificity
2 %
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 %
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 %
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 %
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 MAPT.

By CeGaT GmbH in Germany.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Dementia (MAPT and GRN).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GRN, MAPT
Specificity
50 %
Genes
100 %
Frontotemporal Dementia.

By Asper Biogene Asper Biogene LLC in Estonia.

GRN, MAPT, CHMP2B, TARDBP
Specificity
25 %
Genes
100 %
Parkinson Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

HTRA2, PARK7, PINK1, PRKN, PLA2G6, MAPT, LRRK2, SNCA, ATP13A2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1, GIGYF2
Specificity
7 %
Genes
100 %
Frontotemporal dementia, MAPT sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

MAPT
Specificity
100 %
Genes
100 %
Test for MAPT-Related Disorders.

By Secugen SL in Spain.

MAPT
Specificity
100 %
Genes
100 %
Dementia, frontotemporal, with or without parkinsonism.

By Praxis fuer Humangenetik Wien in Austria.

MAPT
Specificity
100 %
Genes
100 %
Pick disease.

By Praxis fuer Humangenetik Wien in Austria.

MAPT
Specificity
100 %
Genes
100 %
Supranuclear palsy, progressive.

By Praxis fuer Humangenetik Wien in Austria.

MAPT
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Dementia, frontotemporal, with or without parkinsonism.

By MedGene in Slovakia.

MAPT
Specificity
100 %
Genes
100 %
Pick disease.

By MedGene in Slovakia.

MAPT
Specificity
100 %
Genes
100 %
Supranuclear palsy, progressive.

By MedGene in Slovakia.

MAPT
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 Frontotemporal Dementia Panel.

By Invitae in United States.

VCP, GRN, MAPT, FUS, DCTN1, TARDBP, UBQLN2, TBK1, CHCHD10
Specificity
12 %
Genes
100 %
Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons).

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

APP, PSEN1, PSEN2, MAPT, APOE, A2M
Specificity
17 %
Genes
100 %
Alzheimer: MAPT, CLU, PICALM, CR1 genes screening.

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

MAPT, PICALM, CLU, CR1
Specificity
25 %
Genes
100 %
Frontotemporal dementia: MAPT and PGRN genes deletions-duplications analysis (MLPA).

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

GRN, MAPT
Specificity
50 %
Genes
100 %
Frontotemporal dementia: MAPT gene sequence analysis.

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

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal dementia.

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

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
13 %
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 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
MAPT - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

MAPT
Specificity
100 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
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 %
MAPT.

By Fulgent Genetics Fulgent Genetics in United States.

MAPT
Specificity
100 %
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 %
Parkinson Disease Panel.

By Blueprint Genetics in Finland.

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Frontotemporal dementia.

By Bioarray in Spain.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Lobar Degeneration (MAPT gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

MAPT
Specificity
100 %
Genes
100 %
Familial Alzheimer Dementia (MAPT gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

MAPT
Specificity
100 %
Genes
100 %
PERIVENTRICULAR NODULAR HETEROTOPIA.

By Laboratorio de Genetica Clinica SL in Spain.

MAPT
Specificity
100 %
Genes
100 %
PICK DISEASE OF BRAIN.

By Laboratorio de Genetica Clinica SL in Spain.

MAPT
Specificity
100 %
Genes
100 %
PROGRESSIVE SUPRANUCLEAR PALSY.

By Laboratorio de Genetica Clinica SL in Spain.

MAPT
Specificity
100 %
Genes
100 %
PICK DISEASE OF BRAIN.

By Laboratorio de Genetica Clinica SL in Spain.

MAPT
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 %
Classic Progressive Supranuclear Palsy , Sequencing MAPT Gene.

By Reference Laboratory Genetics in Spain.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Dementia , Sequencing MAPT Gene.

By Reference Laboratory Genetics in Spain.

MAPT
Specificity
100 %
Genes
100 %
Frontotemporal Dementia with or without Parkinsonism , Deletions-Duplications (MLPA) MAPT Gene.

By Reference Laboratory Genetics in Spain.

MAPT
Specificity
100 %
Genes
100 %
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

APP, PSEN1, GRN, PSEN2, MAPT, APOE, C9orf72, A2M
Specificity
13 %
Genes
100 %
Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
13 %
Genes
100 %
Frontotemporal dementia.

By Labor Dr. Wisplinghoff in Germany.

MAPT
Specificity
100 %
Genes
100 %
MAPT-Related Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAPT
Specificity
100 %
Genes
100 %

Alternate names

Supranuclear Palsy, Progressive, 1; Psnp1 Is also known as psp, steele-richardson-olszewski syndrome;classic psp syndrome; richardson syndrome; steele-richardson-olszewski disease.


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