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The recent article by Soliveri et al1 identifies an Italian kindred with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with the N279K mutation. The clinical phenotype is similar to that described in other kindreds with the N279K mutation, with prominent parkinsonism and personality changes early in the course of the disease.2
The observation that personality changes preceded parkinsonism in the patient described by Soliveri and colleagues is of interest because isolated personality changes at symptom onset occur in only a few previously described patients with the N279K mutation. We have systematically reviewed the records of several kindreds with this mutation.
Tau haplotyping was performed in 28 DNA samples from 5 N279K families. Tau haplotypes (H1/H1, H1/H2, and H2/H2) were assessed using polymerase chain reaction amplification with a deletion-insertion polymorphism in intron 9. Clinical and genetic data are shown in the Table.
The earlier age at symptom onset and longer disease duration are notable in patients with the H1/H2 genotype, although the small sample size limits these observations. It is also interesting that 1 patient with the H1/H2 genotype initially developed isolated personality changes, a finding in only 3 patients in our series. These early neuropsychiatric changes parallel findings of neuropsychological dysfunction in carriers of the N279K mutation prior to the onset of motor symptoms.3 Presence of the H2 allele may predispose patients to these features, but analysis of other kindreds is needed given the small number of described cases. Determining the tau haplotype of individuals in the Italian kindred will be of particular interest in this regard. Further collaborative studies are required to determine if the tau haplotype affects not only risk for disease development but also clinical phenotype.
Correspondence: Dr Wszolek, 4500 San Pablo Rd, Jacksonville, FL 32224 (wszolek.zbigniew@mayo.edu).
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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Users' Guides to the Medical Literature Was the Disease Phenotype Properly Defined and Accurately Recorded by Someone Blind to the Genetic Information?
Users' Guides to the Medical Literature The first step involves transcribing DNA into messenger RNA (mRNA) (Figure e18.1-3). The mRNA...
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