MAPT S305I mutation: implications for argyrophilic grain disease.

Frontotemporal lobar degeneration (FTLD) with mutations in the tau gene (MAPT) causes familial frontotemporal dementia with tau pathology. Many of these mutations result in morphological phenotypes resembling sporadic tauopathies, although, to date, no such cases mimicking argyrophilic grain disease (AgD) have been documented. We now present a case with a novel S305I MAPT mutation and a morphological phenotype showing resemblance to AgD. At the age of 39, the patient developed behavioural and personality changes and lack of verbal fluency with later poor performance on naming tasks and rigidity in the extremities. After a short disease course of 1.5 years, the patient died. A unique neuropathological phenotype with neuronal diffuse cytoplasmic tau immunoreactivity, oligodendroglial-coiled bodies, argyrophilic grains, and non-argyrophilic, but tau-immunopositive and ubiquitin-immunonegative pre-grains were observed, whereas classical neurofibrillary tangles, Pick bodies, and neuritic plaques were absent. The tau-positive abnormal structures were composed only of 4R-tau isoforms and, ultrastructurally, straight filaments. Neuronal loss was greatest in the medial temporal cortex, hippocampus, and amygdala. These pathological features resemble AgD. The novel S305I substitution has a strong effect on MAPT exon 10 splicing, thereby causing a striking increase in 4R-tau isoforms. Our observation not only widens the phenotypic spectrum of FTLD with MAPT mutation but also underpins the notion that the predominance of similar neuropathological findings in sporadic AgD cases may be viewed as features of a distinct disease entity.

Car drivers with epilepsy (Pilot Hungarian EPIMED Database Evaluation).

We investigated aspects of driving among Hungarian patients with epilepsy. Nineteen percent (148/753) of our population had a driving license (DL), including 26% (38/148) who used it. Among persons without a DL, 29% (178/605) desired one. Among those who drove (n=38), 24 worked and 8 had experienced seizures in the last 3 months. Each of these seizures occurred during sleep (5/8), were preceded by known auras and warning signs (2/8) or were provoked by extreme external factors (1/8).

[Mini-Cog: a simple method for very brief screening of mental decline]. / Mini-cog: a mentális hanyatlás "ultrarövid" és egyszerú szúrésének lehetósége.

INTRODUCTION: Physicians do not detect majority of the demented people, and many patients appear only in an advanced stage of their mental decline at the first medical visit. Role of general practitioner is crucial; a brief and effective screening method can basically change the present situation. Borson et al (2000) has investigated a new, very brief method named Mini-Cog that consists of the combination of the 3-word recall and the clock-drawing test. AIM: of the present study was to evaluate this method in Hungarian patient population. METHODS: Authors have analysed the charts of patients examined by the first author in the outpatient part of the Memory clinic of the National Institute of Psychiatry and Neurology in a 2-year interval (between 11.01. 1999 and 31.10.2001). Data of 186 patients were analysed. From the Mini-Mental State the total score, score of three-word recall (possible scores between 0-3), serial counting backward with 7 from 100 were taken into consideration; the clock-drawing test was analysed quantitatively (1 = failure, 2 = borderland, 3 = acceptable solution). RESULTS: The algorithm which considers the patient demented if she or he does not remember of any word, or remembers only of 1-2 and the clock-drawing is pathologic, has a high sensitivity (100%) and specificity (80.9%) in cases using the < or = 24 Mini-Mental State value, while the sensitivity and specificity is 98.8% and 88.0% respectively if drawing the limit at < or = 26 points. Combination of the two tests (word-recall, clock drawing) gives a better value than either of them alone. Based on their experiences they propose to apply in a short test the serial backwards with seven from 100 too, while patients with very high Mini-Mental State scores (29-30) not infrequently can not perfectly solve this subtest (7/11 = 64 p.c.). CONCLUSION: In agreement with the Hungarian Protocol for diagnosing and treating dementias (1999) authors stress the importance of the consultation with a specialist (neurologist or psychiatrist) in cases of suspected dementia to reveal the underlying disease.