Frontotemporal Dementia, Chromosome 3-linked; Ftd3

Description

A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

Clinical Features

Top most frequent phenotypes and symptoms related to Frontotemporal Dementia, Chromosome 3-linked; Ftd3

  • Hyperreflexia
  • Gait disturbance
  • Dystonia
  • Cerebral atrophy
  • Babinski sign
  • Dementia
  • Myoclonus
  • Cerebral cortical atrophy
  • Rigidity
  • Aggressive behavior

And another 27 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.
No data available about the known clinical features onset.

Alternative names

Frontotemporal Dementia, Chromosome 3-linked; Ftd3 Is also known as dem, dementia, familial nonspecific, dmt1.

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.


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Frontotemporal Dementia, Chromosome 3-linked; Ftd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

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

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
Dystonia.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Amyotrophic lateral sclerosis 17 (sequence analysis of CHMP2B gene).

By CGC Genetics (Portugal).

CHMP2B
Specificity
100 %
Genes
100 %
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics (Portugal).

TARDBP, TUBA4A, UBQLN2, VCP, CHCHD10, CSF1R, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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