Living-related liver transplantation using a graft from genetically proven heterozygote donors might be a permissible treatment modality for CTLN2. Long-term observation may be necessary to make a definite conclusion possible.

Aim:In Japan, the government and media have become aware of the issues of early onset dementia (EOD), but policies for EOD have not yet been established and support systems are inadequate. To provide practical data about EOD, a two-step postal survey was performed.Methods: A questionnaire requesting information on EOD cases was sent to target institutions in five catchment areas in Japan. According to the answers from the institutions, we estimated the prevalence of EOD using census data and determined the illnesses causing EOD. As a quality control study, the authors reviewed every diagnosis in a quarter of the reported cases using the medical and psychiatric records and neuroimaging data. This study was conducted from 2006 to 2007. Results:Information from 2469 patients was collected from 12 747 institutions, and 2059 subjects with EOD were identified. The estimated prevalence of EOD was 47.6 per 100 000 (95% confidence interval, 47.1-48.1) for all of Japan. Of the illnesses causing EOD, vascular dementia (VaD) was the most frequent (39.8%), followed by Alzheimer's disease. Conclusions:The prevalence of EOD in Japan appeared to be similar to that in Western countries. However, unlike previously reported international experience, VaD was the most frequent cause of EOD in all catchment areas in Japan.

A temperature‐sensitive mutant of Saccharomyces cerevisiae with a lesion in cholinephosphate cytidyltransferase was isolated from a choline auxotroph. This mutant grew in a medium supplemented with ethanolamine or N‐methylethanolamine, but at a much slower rate in a medium supplemented with choline or N,N‐dimethylethanolamine at 37 °C. At 23 °C, mutant cells grew at the same rate in any of these media. Labelling experiments showed that the activity of phosphatidylcholine synthesis from choline in the mutant was thermolabile and rapidly lost on incubation of cells at 37 °C (half‐life, 4 min). Determination of the intermediates and the enzyme activities of the CDP‐choline pathway indicated that mutant cells had a lesion in cholinephosphate cytidyltransferase. Genetic analysis showed that the thermolabile phosphatidylcholine synthesis in the mutant arose from a single mutation in a gene coding for cholinephosphate cytidyltransferase. The mutant strain was found to be defective in dCDP‐choline synthesis. Thus, a single enzyme is responsible for the synthesis of both CDP‐choline and dCDP‐choline. Ethanolaminephosphate cytidyltransferase activity in the mutant was comparable to that in the parental strain. An alteration in cholinephosphate cytidyltransferase did not affect the incorporation of labelled ethanolamine into lipids. These results indicate that ethanolaminephosphate cytidyltranferase is coded for by a distinct gene from that for cholinephosphate cytidyltransferase. The CDP‐choline pathway was not required by cells as long as phosphatidylcholine was supplied via the phosphatidylethanolamine methylation pathway. The phosphatidylethanolamine methylation pathway and the CDP‐choline pathway were found to be complementary to each other in phosphatidylcholine synthesis.

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We studied seven cases of Alzheimer's disease (AD). Six of the patients had presenilin 1 (PS1) mutations (PS1AD). Three novel PS1 mutations (T99A, H131R and L219R) and three other missense mutations (M233L, H163R and V272A) were found in the PS1AD group. We measured the levels of phosphorylated tau (ptau-181, ptau-199) and Aβ (Aβ1-42, Aβ1-40 and Aβ1-38) in the cerebrospinal fluid (CSF) of PS1AD patients, early-onset sporadic AD (EOSAD), late-onset sporadic AD (LOSAD) and non-demented subjects (ND). The CSF levels of Aβ1-42 in the three AD groups were significantly lower than those of the ND group (p < 0.0001). CSF levels of Aβ1-42 in the PS1AD group were significantly lower than those in the two sporadic AD groups. The Aβ1-40 and Aβ1-38 levels in the CSF of the PS1AD group were significantly lower than those of the three other groups (p < 0.0001, respectively). The levels of Aβ1-40, Aβ1-38 and Aβ1-42 in the CSF of the PS1AD group remained lower than those of the ND group for 4 years. Not only CSF Aβ1-42, but also Aβ1-40 and Aβ1-38 decreased in the advanced stages of PS1AD.