Pick’s Disease Pathology of a Missense Mutation of S305N of Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: Another Phenotype of S305N
- 1 June 2004
- journal article
- case report
- Published by S. Karger AG in Dementia and Geriatric Cognitive Disorders
- Vol. 17 (4) , 293-297
- https://doi.org/10.1159/000077157
Abstract
We report the second phenotype of frontotemporal dementia and parkinsonism linked to chromosome 17 with S305N similar to Pick’s disease pathology in two brothers. The brain of the older brother showed macroscopic atrophy compatible with Pick’s disease, and subsequent tau gene analysis revealed heterozygous S305N mutation in exon 10 of the tau gene. Round-shaped neuronal inclusions similar to Pick’s bodies were positive for phosphorylated serine 262 as well as other anti-tau antisera, which is different from immunoexpression of Pick’s bodies. Ultrastructurally, these neuronal inclusions consisted of straight, randomly orientated fibrils measuring approximately 10–20 nm in width and 60–600 nm in length. This ultrastructural profile is similar to that of the first case of S305N. S305N reported here can cause another phenotype closely resembling Pick’s disease.Keywords
This publication has 5 references indexed in Scilit:
- Sporadic Pick's disease: A tauopathy characterized by a spectrum of pathological τ isoforms in gray and white matterAnnals of Neurology, 2002
- Pick's disease associated with the novel Tau gene mutation K369IAnnals of Neurology, 2001
- A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP GeneArchives of Neurology, 2001
- Pick's disease is associated with mutations in the tau geneAnnals of Neurology, 2000
- 5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10Journal of Biological Chemistry, 1999