Details of Disease | DrugMAP

General Information of Disease (ID: DISLRYFE)

Disease Name	Primary progressive aphasia
Synonyms	primary progressive aphasia syndrome; PPA; Mesulam syndrome
Definition	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).
Disease Hierarchy	DISM20FF: Neurodegenerative disease DISLRYFE: Primary progressive aphasia
Disease Identifiers	MONDO ID MONDO_0019806 MESH ID D018888 UMLS CUI C0282513 MedGen ID 79466 Orphanet ID 95432 SNOMED CT ID 723124007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C9orf72	TTA4SHR	moderate	Genetic Variation	[1]
GRN	TT0LWE3	moderate	Genetic Variation	[2]
TARDBP	TT9RZ03	moderate	Genetic Variation	[3]
ABAT	TTT2LD9	Strong	Biomarker	[4]
LAMC2	TTNS7H3	Strong	Biomarker	[5]
------------------------------------------------------------------------------------

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOC1	OTA58CED	Strong	Genetic Variation	[6]
BPIFA2	OTLFSDZD	Strong	Biomarker	[7]
NEFL	OTQESJV4	Strong	Biomarker	[8]
PPA1	OTHZK1QB	Strong	Genetic Variation	[9]
PSPH	OTV1PVAX	Strong	Biomarker	[7]
PSPN	OT54LLZJ	Strong	Biomarker	[7]
PTPN4	OT6SXU5Y	Strong	Altered Expression	[10]
RIDA	OTW4098I	Strong	Biomarker	[7]
STXBP3	OTTTYMAQ	Strong	Biomarker	[7]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[6]
ECD	OT3L3PCU	Definitive	Biomarker	[11]
IGFALS	OTTWCZYM	Definitive	Biomarker	[12]
------------------------------------------------------------------------------------


⏷ Show the Full List of 12 DOT(s)

References

1	Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72.Hum Brain Mapp. 2020 Mar;41(4):1006-1016. doi: 10.1002/hbm.24856. Epub 2019 Nov 7.
2	Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation.J Neurol. 2019 May;266(5):1274-1279. doi: 10.1007/s00415-019-09298-w. Epub 2019 Mar 29.
3	A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia.Neurocase. 2020 Feb;26(1):1-6. doi: 10.1080/13554794.2019.1690665. Epub 2019 Nov 21.
4	Reductions in GABA following a tDCS-language intervention for primary progressive aphasia.Neurobiol Aging. 2019 Jul;79:75-82. doi: 10.1016/j.neurobiolaging.2019.03.011. Epub 2019 Mar 27.
5	Role of Cerebrospinal Fluid Biomarkers and (18)F-florbetapir PET Imaging in the Diagnosis of Primary Progressive Aphasia: A Retrospective Analysis.Alzheimer Dis Assoc Disord. 2019 Jul-Sep;33(3):282-284. doi: 10.1097/WAD.0000000000000289.
6	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.
7	C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.
8	Plasma Neurofilament Light Chain in Primary Progressive Aphasia and Related Disorders: Clinical Significance and Metabolic Correlates.J Alzheimers Dis. 2019;72(3):773-782. doi: 10.3233/JAD-190838.
9	Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.Arch Neurol. 2007 Jan;64(1):43-7. doi: 10.1001/archneur.64.1.43.
10	Slowing is slowing: Delayed neural responses to words are linked to abnormally slow resting state activity in primary progressive aphasia.Neuropsychologia. 2019 Jun;129:331-347. doi: 10.1016/j.neuropsychologia.2019.04.007. Epub 2019 Apr 25.
11	The Value of 99mTc ECD SPECT With Statistical Image Analysis on Enhancing the Early Diagnosis of Primary Progressive Aphasia.Clin Nucl Med. 2017 Feb;42(2):e117-e120. doi: 10.1097/RLU.0000000000001475.
12	The underacknowledged PPA-ALS: A unique clinicopathologic subtype with strong heritability.Neurology. 2019 Mar 19;92(12):e1354-e1366. doi: 10.1212/WNL.0000000000007146. Epub 2019 Feb 15.