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

被引：0
|
作者：
Yun, Wen-Wei [1 ]
Jia, Sha-Sha [1 ]
Li, Pu-Lei [1 ]
Gao, Ping
Jiang, Ye [1 ]
Zhang, Cheng-Liang [1 ]
机构：
[1] Nanjing Med Univ, Changzhou Peoples Hosp 2, Dept Neurol, Changzhou, Peoples R China
来源：
NEUROCASE | 2025年 / 31卷 / 01期
关键词：
LvPPA; <italic>GRN</italic>; mutation; Cys92Alafs; lateral atrophy; FRONTOTEMPORAL DEMENTIA; MUTATIONS;
D O I：
10.1080/13554794.2024.2436215
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The majority of genetic Primary progressive aphasia (PPA) patients harbor mutations in the granulin (GRN) 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 GRN 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 GRN-associated lvPPA. A new mutation site was detected in exon 4 of GRN gene.
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页码：11 / 16
页数：6
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