Nasu-Hakola Disease With Stroke-like Attack: A Case Report
- PMID: 36820836
- DOI: 10.1097/WAD.0000000000000547
Nasu-Hakola Disease With Stroke-like Attack: A Case Report
Abstract
Homozygous mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) gene are known to cause Nasu-Hakola disease, which is a rare cause of progressive presenile dementia. A 36-year-old woman presented with repetitive seizures, a 5-year history of progressive behavioral and cognitive changes, and an affected sibling. Magnetic resonance imaging of the brain revealed an ischemic lesion in the left medial temporal lobe. Extensive evaluation of juvenile stroke revealed that viral and autoimmune encephalitides, serum lactate and pyruvate levels, and cerebrospinal fluid composition were all normal. Brain magnetic resonance imaging was notable of thinning of the corpus callosum and caudate and frontotemporal cortical atrophy, in addition to the ischemic lesion. Whole exome sequencing revealed a homozygous mutation (c.A257T; p.D86V) in TREM2. The present case expands the clinical phenotype of Nasu-Hakola disease and further suggests that TREM2 pathway might have role in vessel wall health.
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Conflict of interest statement
The authors declare no conflicts of interest.
References
-
- Samanci B, Bilgic B, Gelisin O, et al. TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features. Eur J Neurol. 2021;28:2603–2613.
-
- Paloneva J, Manninen T, Christman G, et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet. 2002;71:656–662.
-
- Morenas-Rodríguez E, Li Y, Nuscher B, et al. Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer’s disease: a longitudinal observational study. Lancet Neurol. 2022;21:329–341.
-
- Zhou SL, Tan CC, Hou XH, et al. TREM2 variants and neurodegenerative diseases: a systematic review and meta-analysis. J Alzheimers Dis. 2019;68:1171–1184.
-
- Guerreiro R, Bilgic B, Guven G, et al. Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. Neurobiol Aging. 2013;34:2890 e1–2890 e5.
Publication types
MeSH terms
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical