Frontotemporal Dementia, Ubiquitin-Positive

Common Name(s)

Frontotemporal Dementia, Ubiquitin-Positive

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) ({19:Huey et al., 2006}; {31:Mukherjee et al., 2006}; {28:Mesulam et al., 2007}). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; {104300}) or Parkinson disease (PD; {168600}), which are part of the phenotypic spectrum of this disorder ({5:Brouwers et al., 2007}). Genetic Heterogeneity of FTLD-TDP The specific presence of TDP43 (TARDBP; {605078})-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 {43:Van Deerlin et al., 2010}). TDP43-positive inclusions also occur in ALS10 ({612069}), caused by mutation in the TARDBP gene ({605078}); IBMPFD ({167320}), caused by mutation in the VCP gene ({601023}); and FTDALS ({105550}), caused by mutation in the C9ORF72 gene ({614260}). {27:Mackenzie and Rademakers (2007)} provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. {6:Cairns and Ghoshal (2010}) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FLTD-TDP, and also noted the FTLDU is now referred to as FTLD-TDP.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Frontotemporal Dementia, Ubiquitin-Positive" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Frontotemporal Dementia, Ubiquitin-Positive" returned 0 free, full-text research articles on human participants.

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The terms "Frontotemporal Dementia, Ubiquitin-Positive" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 15 Aug 2014

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Language in Primary Progressive Aphasia
 

Status: Recruiting

Condition Summary: Primary Progressive Aphasia

 

Last Updated: 22 Jul 2014

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Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia
 

Status: Recruiting

Condition Summary: Frontotemporal Dementia

 

Last Updated: 11 Sep 2014

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