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.

引用

页码：11 / 16

页数：6

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