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
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.
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