Prkar1b-related Neurodegenerative Dementia With Intermediate Filaments

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.

Genes related to Prkar1b-related Neurodegenerative Dementia With Intermediate Filaments

PRKAR1B

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Prkar1b-related Neurodegenerative Dementia With Intermediate Filaments

Dementia
Anxiety
Falls
Postural instability
Parkinsonism
Memory impairment
Bradykinesia
Muscle stiffness
Language impairment
Apathy

And another 13 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Prkar1b-related Neurodegenerative Dementia With Intermediate Filaments Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...) View the complete list with 48 more genes Panel complete gene list SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10, PARK7, RAB39B, ATP6AP2, LRRK2, LYST, CLN3, SLC39A14, CHCHD2, CP, VPS13C, CSF1R, SLC30A10, C19orf12, DCAF17, ADORA1, DCTN1, DNAJC12, WDR45, DNM1L, TENM4, ATP13A2, DNAJC13, EIF4G1, PTRHD1, FTL, GBA, GCH1, GRN, DNAJB2, APP, KIF5A, MAPT, ATP1A3, PRKN, PDE10A, PDE8B, PDGFB, PDGFRB, PLA2G6, PODXL, POLG, POLG2, PRKAR1B, PRKRA, PRNP, PSEN1, PSEN2, RAB29 Specificity 2 % Genes 100 %
Parkinson Syndrome, autosomal dominant Panel. By CeGaT GmbH (Germany). SNCA, VPS35, HTRA2, LRRK2, CHCHD2, DNAJC13, EIF4G1, GBA, PRKAR1B, RAB29 Specificity 10 % Genes 100 %
Parkinson all Panel. By CeGaT GmbH (Germany). ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2 , (...) View the complete list with 27 more genes Panel complete gene list ATXN2, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PANK2, PARK7, RAB39B, ATP6AP2, LRRK2, ZFYVE26, CHCHD2, VPS13C, SLC30A10, C19orf12, DCTN1, TENM4, ATP13A2, DNAJC13, EIF4G1, FMR1, FTL, GBA, GCH1, GRN, MAPT, ATXN3, ASNA1, ATP1A3, PRKN, PDE10A, PDE8B, PLA2G6, PODXL, POLG, PRKAR1B, PRKRA, PTEN, RAB29 Specificity 3 % Genes 100 %
Frontotemporal Dementia (FTD) Panel. By CeGaT GmbH (Germany). ATXN2, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP, CHCHD10, OPTN, TREM2, TOMM40, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B , (...) View the complete list with 8 more genes Panel complete gene list ATXN2, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP, CHCHD10, OPTN, TREM2, TOMM40, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, MATR3, NOTCH3, SIGMAR1, PRKAR1B, PRNP, PSEN1, PSEN2 Specificity 4 % Genes 100 %
Dementia all Panel. By CeGaT GmbH (Germany). ATXN2, SQSTM1, TARDBP, TBK1, TBP, TUBA4A, UBQLN2, VCP, VPS35, MARK4, NLGN1, CHCHD10, CD33, OPTN, TREM2, TOMM40, CSF1R, CHMP2B, DCTN1, C9orf72 , (...) View the complete list with 16 more genes Panel complete gene list ATXN2, SQSTM1, TARDBP, TBK1, TBP, TUBA4A, UBQLN2, VCP, VPS35, MARK4, NLGN1, CHCHD10, CD33, OPTN, TREM2, TOMM40, CSF1R, CHMP2B, DCTN1, C9orf72, ABCA7, FUS, GRN, HNRNPA1, HNRNPA2B1, APOE, ITM2B, APP, MAPT, MATR3, NOTCH3, SIGMAR1, PRKAR1B, PRNP, PSEN1, PSEN2 Specificity 3 % Genes 100 %
NGS panel - dementia. By Genome Diagnostics VU University Medical Center (Netherlands). SNCA, SNCB, SOD1, SORL1, SQSTM1, TARDBP, TYROBP, UBAP1, UBQLN2, VAPB, VCP, FIG4, OPTN, TREM2, VPS54, IFT74, CSF1R, CHMP2B, PSENEN, ARHGEF28 , (...) View the complete list with 21 more genes Panel complete gene list SNCA, SNCB, SOD1, SORL1, SQSTM1, TARDBP, TYROBP, UBAP1, UBQLN2, VAPB, VCP, FIG4, OPTN, TREM2, VPS54, IFT74, CSF1R, CHMP2B, PSENEN, ARHGEF28, ERBB4, FUS, ALS2, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ITM2B, APP, MAPT, NEFH, NOTCH3, SIGMAR1, PFN1, SERPINI1, PRKAR1B, PRNP, PRPH, PSEN1, PSEN2 Specificity 3 % Genes 100 %
NGS panel - Parkinson. By Genome Diagnostics VU University Medical Center (Netherlands). ATXN2, SLC18A2, SLC6A3, SNCA, SPR, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, SLC30A10, DCTN1 , (...) View the complete list with 15 more genes Panel complete gene list ATXN2, SLC18A2, SLC6A3, SNCA, SPR, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, SLC30A10, DCTN1, ATP13A2, DNAJC13, EIF4G1, FTL, GBA, GCH1, MAPT, ATXN3, ATP1A3, PRKN, PLA2G6, POLG, PRKAR1B, PRKRA, RAB29 Specificity 3 % Genes 100 %
PRKAR1B. By Fulgent Genetics Fulgent Genetics (United States). PRKAR1B Specificity 100 % Genes 100 %

You can get up to 1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 41; SCA41 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y; LGMD2Y MENTAL RETARDATION, X-LINKED 99; MRX99 LONG QT SYNDROME 15; LQT15 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1