Details of Disease | DrugMAP

General Information of Disease (ID: DIS9HZET)

Disease Name	Progressive non-fluent aphasia
Synonyms	non-fluent primary progressive aphasia; Agramatic variant of PPA; non-fluent variant PPA; Primary Progressive Nonfluent aphasia; Agramatic variant of primary progressive aphasia
Definition	Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
Disease Hierarchy	DIS6Z6TF: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions DISOJJ2D: Movement disorder DIS9HZET: Progressive non-fluent aphasia
Disease Identifiers	MONDO ID MONDO_0015059 MESH ID D057178 UMLS CUI C0751706 MedGen ID 148373 Orphanet ID 100070 SNOMED CT ID 716281000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PSEN1	TTZ3S8C	moderate	GermlineCausalMutation	[1]
TREM2	TTQRMSJ	moderate	SusceptibilityMutation	[2]
VCP	TTHNLSB	moderate	SusceptibilityMutation	[3]
MAPT	TTS87KH	Strong	Biomarker	[4]
TARDBP	TT9RZ03	Strong	Biomarker	[5]
C9orf72	TTA4SHR	Definitive	Biomarker	[4]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHMP2B	OTZA7RJB	moderate	SusceptibilityMutation	[3]
TMEM106B	OTUWA6NW	moderate	SusceptibilityMutation	[6]
ARHGAP35	OTJ8POG0	Strong	Biomarker	[7]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[7]
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References

1	A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.Ann Neurol. 2004 May;55(5):617-26. doi: 10.1002/ana.20083.
2	Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.Neurobiol Aging. 2014 Nov;35(11):2657.e13-2657.e19. doi: 10.1016/j.neurobiolaging.2014.06.018. Epub 2014 Jun 20.
3	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.
4	Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Brain Pathol. 2017 Nov;27(6):723-736. doi: 10.1111/bpa.12486. Epub 2017 Mar 2.
5	CSF Biomarkers of Neurodegeneration in Progressive Non-fluent Aphasia and Other Forms of Frontotemporal Dementia: Clues for Pathomechanisms?.Front Neurol. 2018 Jul 2;9:504. doi: 10.3389/fneur.2018.00504. eCollection 2018.
6	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.
7	Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia.Brain. 2017 May 1;140(5):1437-1446. doi: 10.1093/brain/awx066.