Details of Disease

General Information of Disease (ID: DISQHX2V)

• Disease Name: Behavioral variant of frontotemporal dementia
• Synonyms: bv-FTD
• Definition: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
• Disease Hierarchy:
  DISKYHXL: Frontotemporal dementia
  DISOJJ2D: Movement disorder
  DISQHX2V: Behavioral variant of frontotemporal dementia
• Disease Identifiers:
  MONDO ID: MONDO_0017160
  UMLS CUI: C4011788
  MedGen ID: 860225
  Orphanet ID: 275864
  SNOMED CT ID: 716994006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PSEN1	TTZ3S8C	Supportive	Autosomal dominant	[1]
SQSTM1	TTOT2RY	Supportive	Autosomal dominant	[2]
C9orf72	TTA4SHR	moderate	Genetic Variation	[3]
SQSTM1	TTOT2RY	moderate	Genetic Variation	[4]
VCP	TTHNLSB	moderate	SusceptibilityMutation	[5]
GRN	TT0LWE3	Strong	Genetic Variation	[3]
MAPT	TTS87KH	Strong	Genetic Variation	[3]
MOBP	TTYUK4F	Strong	Genetic Variation	[6]
PSEN1	TTZ3S8C	Strong	GermlineCausalMutation	[1]
TARDBP	TT9RZ03	Strong	Biomarker	[7]
TREM2	TTQRMSJ	Strong	Genetic Variation	[8]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Strong	Biomarker	[9]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSEN1	OTKL39RT	Supportive	Autosomal dominant	[1]
SQSTM1	OTGY5D5J	Supportive	Autosomal dominant	[2]
CHMP2B	OTZA7RJB	moderate	SusceptibilityMutation	[5]
TMEM106B	OTUWA6NW	moderate	SusceptibilityMutation	[10]
APOC1	OTA58CED	Strong	Genetic Variation	[11]
DCTN1	OT5B51FJ	Strong	Genetic Variation	[12]
NEFL	OTQESJV4	Strong	Biomarker	[13]
RAP1GAP	OTC31ONQ	Strong	Altered Expression	[14]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[11]
TPSG1	OTDESHKT	Strong	Biomarker	[15]

References

• [1] Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 2000 Nov 28;55(10):1577-8. doi: 10.1212/wnl.55.10.1577.
• [2] SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.
• [3] (18)F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.Alzheimers Res Ther. 2019 Jan 31;11(1):13. doi: 10.1186/s13195-019-0470-7.
• [4] Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.Front Aging Neurosci. 2018 Feb 6;10:26. doi: 10.3389/fnagi.2018.00026. eCollection 2018.
• [5] Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review.Transl Neurodegener. 2013 Apr 19;2(1):8. doi: 10.1186/2047-9158-2-8.
• [6] Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia.Neurology. 2014 Aug 5;83(6):502-9. doi: 10.1212/WNL.0000000000000668. Epub 2014 Jul 3.
• [7] Combined Pathologies in FTLD-TDP Types A and C.J Neuropathol Exp Neurol. 2018 May 1;77(5):405-412. doi: 10.1093/jnen/nly018.
• [8] A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.Neurobiol Aging. 2020 Feb;86:201.e1-201.e7. doi: 10.1016/j.neurobiolaging.2019.01.009. Epub 2019 Jan 24.
• [9] Longitudinal white matter change in frontotemporal dementia subtypes and sporadic late onset Alzheimer's disease.Neuroimage Clin. 2017 Sep 14;16:595-603. doi: 10.1016/j.nicl.2017.09.007. eCollection 2017.
• [10] What we know about TMEM106B in neurodegeneration.Acta Neuropathol. 2016 Nov;132(5):639-651. doi: 10.1007/s00401-016-1610-9. Epub 2016 Aug 20.
• [11] TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.J Alzheimers Dis. 2012;31(4):731-40. doi: 10.3233/JAD-2012-120403.
• [12] DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.JAMA Neurol. 2014 Feb;71(2):208-15. doi: 10.1001/jamaneurol.2013.5100.
• [13] Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy.Brain. 2019 Apr 1;142(4):1121-1133. doi: 10.1093/brain/awz031.
• [14] Understanding phenotype variability in frontotemporal lobar degeneration due to granulin mutation.Neurobiol Aging. 2014 May;35(5):1206-11. doi: 10.1016/j.neurobiolaging.2013.10.097. Epub 2013 Nov 1.
• [15] Reduced tendency to attribute mental states to abstract shapes in behavioral variant frontotemporal dementia links with cerebellar structural integrity.Neuroimage Clin. 2019;22:101770. doi: 10.1016/j.nicl.2019.101770. Epub 2019 Mar 12.