Familial language network vulnerability in primary progressive aphasia.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
18 08 2020
18 08 2020
Historique:
received:
09
12
2019
accepted:
27
02
2020
pubmed:
24
7
2020
medline:
21
10
2020
entrez:
24
7
2020
Statut:
ppublish
Résumé
To investigate evidence of the potential role of early cortical vulnerability in the development of primary progressive aphasia (PPA). A woman with a diagnosis of PPA and her 9 adult siblings, 7 with developmental language disabilities, underwent neuropsychological testing, structural MRI, and resting-state fMRI. Whole-exome sequencing was conducted for genes associated with dyslexia or with neurodegenerative dementia. The siblings demonstrated lower verbal than nonverbal cognitive test scores in a developmental dyslexia pattern. On structural MRI, although the siblings did not differ from controls in total brain volume, the left hemisphere language area volume was significantly smaller than the right. Furthermore, cortical connectivity between the left superior temporal area, previously identified as the region of peak atrophy in the proband early in the course of illness, and adjacent language network components, including the planum temporale, was decreased in the siblings. No distinctive genetic signatures were identified. This report further supports the hypothesis that at least some cases of PPA may be based on a familial language network vulnerability that interferes with the acquisition of language in some members and that makes the language network a locus of least resistance to the effects of an independently late-arising neurodegenerative disease in others. This association offers a conceptual model to explain why identical neurodegenerative diseases may selectively target the language network in some individuals while targeting networks that regulate memory or behavior in others. The genetic basis for this vulnerability remains to be determined.
Identifiants
pubmed: 32699140
pii: WNL.0000000000009842
doi: 10.1212/WNL.0000000000009842
pmc: PMC7605508
doi:
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e847-e855Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC008552
Pays : United States
Organisme : NIDCD NIH HHS
ID : K23 DC014303
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS075075
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG013854
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG056258
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020 American Academy of Neurology.
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