Sporadic mixed primary progressive aphasia with semantic / non‐fluent variant phenotypes and GRN mutation: a case report

The mixed PPA-GRN can show multiple levels of language impairment simultaneously altered, such as grammatical, verbal fluency, and semantic, affecting different language pathways, as in this case. The high prevalence of patients with PPA without a family history of FTLD indicates that genetic studies should not be limited to familial cases. Also, GRN mutations are usually present on atypical/mixed PPA phenotypes, suggesting that GRN should be considered primarily in patients with this clinical pattern.

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Publication Details

Journal
Alzheimer s & Dementia
Published
2025-12-01
DOI
https://doi.org/10.1002/alz70857_101997
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Sporadic mixed primary progressive aphasia with semantic / non‐fluent variant phenotypes and GRN mutation: a case report

Paulo Henrique Ferreira Bertolucci, Paulo Eduardo Lahoz Fernandez
Alzheimer s & Dementia
Amyotrophic Lateral Sclerosis Research
article

Sporadic mixed primary progressive aphasia with semantic / non‐fluent variant phenotypes and GRN mutation: a case report

Paulo Henrique Ferreira Bertolucci, Paulo Eduardo Lahoz Fernandez
article en

Abstract

The mixed PPA-GRN can show multiple levels of language impairment simultaneously altered, such as grammatical, verbal fluency, and semantic, affecting different language pathways, as in this case. The high prevalence of patients with PPA without a family history of FTLD indicates that genetic studies should not be limited to familial cases. Also, GRN mutations are usually present on atypical/mixed PPA phenotypes, suggesting that GRN should be considered primarily in patients with this clinical pattern.

Alzheimer s & DementiaVol. 21(S3)
Universidade Federal de São Paulo (BR)
Quality Education
Openalex Percentile: Top 31%
Amyotrophic Lateral Sclerosis Research
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