A new variant in logopenic variant primary progressive aphasia: a case report and literature review.

Ye Jiang, Ping Gao, Sha-Sha Jia, Pu-Lei Li, Cheng-Liang Zhang, Wen-Wei Yun

Journal: Neurocase 2025;31(1):11-16

PMID: 39632497

Abstract

The majority of genetic Primary progressive aphasia (PPA) patients harbor mutations in the granulin () gene. The present case showed impaired performances in single-word retrieval in spontaneous speech and naming, and repetition. Head MRI revealed marked lateral atrophy in the left parietal cortex. A diagnosis of logopenic variant PPA (lvPPA) was established. Genetic analysis showed a heterozygous 10-bp frameshift deletion in exon 4 of the gene (NM_002087.4), leading to transformation of cysteine into alanine at amino acid 92 and creation of a premature stop codon at position 161. This patient represented a rare case of -associated lvPPA. A new mutation site was detected in exon 4 of gene.

Address: Department of Neurology, Changzhou No.2 People's Hospital Affiliated to Nanjing Medical University, Changzhou, China.
Bant logo

© Copyright 2026, Nutrition Evidence

NED wishes to thank the following organisations for their support:

We use cookies to improve your experience and analyze site traffic with Google Analytics. By continuing to use our site, you agree to our use of cookies. Learn more.