Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-related

Description

Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-related

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality
  • Cerebral atrophy
  • Dementia
  • Myoclonus
  • Cerebral cortical atrophy
  • Rigidity

And another 45 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.

Alternative names

Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-related Is also known as dementia, hereditary dysphasic disinhibition, ftld-tdp, grn-related, frontotemporal dementia with tdp43 inclusions, grn-related, ftldu, frontotemporal lobar degeneration with ubiquitin-positive inclusions, frontotemporal dementia, ubiquitin-positive, ftdu, hddd.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-related Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Frontotemporal Dementia (FTD) Evaluation.

By Athena Diagnostics Inc (United States).

C9orf72, GRN, MAPT
Specificity
34 %
Genes
100 %
GRN DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GRN
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.

By Athena Diagnostics Inc (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, CTSD, CTSF, MFSD8, ATP13A2, GRN, PPT1
Specificity
8 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Frontotemporal Dementia (FTD) - PGRN Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

GRN
Specificity
100 %
Genes
100 %
Dementia.

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

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neuronal Ceroid-Lipofuscinoses Panel.

By Genetic Services Laboratory University of Chicago (United States).

DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, MFSD8, GRN, PPT1
Specificity
10 %
Genes
100 %

We have 84 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM 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 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS MUIR-TORRE SYNDROME; MRTES

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more