Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.

Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.

MRI description of cerebral atrophy in mouse lemur primates.

We assessed cerebral atrophy in mouse lemur primates (Microcebus murinus) by estimating CSF volume in their brains from 4.7 Tesla T2-weighted magnetic resonance images. Thirty animals aged from 1 to 10.3 years were imaged, 14 of them were followed for up to 2 years. Seven of these animals were examined for neuropathology. In 12 out of 17 animals older than 3.5 years, CSF volumes were increased. A subgroup of six animals had severe atrophy of the temporal lobe. Another subgroup of five animals displayed diffuse atrophy in addition to the temporal atrophy. One animal had a dilation of the external part of the temporal horn of the lateral ventricle in addition to the temporal atrophy. The three animals with diffuse atrophy that could be studied for neuropathology had diffuse cerebral amyloid deposits detected by immunocytochemistry. The other animals did not display amyloid deposits. Relations between the different types of atrophy as well as their causes will have to be assessed in future studies.

An international perspective on the prevalence of the Wernicke-Korsakoff syndrome.

In the Western world previous studies have shown that the majority of cases of the Wernicke-Korsakoff syndrome (WKS), which is caused by thiamine deficiency, occur in alcoholics. However, in France, a country with one of the highest per capita consumptions of alcohol, the prevalence of the WKS was found to be only 0.4% in a small retrospective autopsy study. This figure is compared with data sent to the authors by a number of neuropathologists from the U.S.A., Europe, Scandinavia and Australia. There was no obvious correlation between the prevalence rates of the WKS, which were highest in Australia (2.8%-previously published), and per capita consumption of alcohol. Other issues such as diet, National programs for supplementation of foods with thiamine, and drinking habits are considered. The pathological diagnosis of the WKS can often be made on macroscopic examination of the brain after fixation in formalin. The mammillary bodies are smaller than normal in most cases of chronic WKS. However in this study it was found that the most common causes of small mammillary bodies were Alzheimer's disease and atrophy due to transneuronal degeneration secondary to lesions in the hippocampus.

[Necrosis of the optic tract, hypothalamus and brain stem after irradiation of a pituitary adenoma with conventional doses]. / Nécrose des voies optiques, de l'hypothalamus et du tronc cérébral après irradiation d'un adénome hypophysaire a doses conventionnelles.

A 56-year-old man had radiation necrosis of the optic pathways, hypothalamus and brainstem following irradiation of a pituitary adenoma at a conventional dose. Factors which predispose to this complication are discussed. Vascular risk factors appear to facilitate radiation induced necrosis, and a reduction of doses is suggested in these cases.

Dopaminergic and cholinergic lesions in progressive supranuclear palsy.

In 9 patients with progressive supranuclear palsy and in 27 controls, dopamine and homovanillic acid concentrations, choline acetyltransferase (CAT) activity, and the number of [3H]spiperone and [3H]quinuclidinyl benzilate binding sites were measured post mortem in the striatum (caudate nucleus, putamen, and nucleus accumbens), substantia innominata, and frontal cortex. Dopamine and homovanillic acid concentrations were reduced in the caudate nucleus and putamen but not in the nucleus accumbens or frontal cortex, indicating that the nigrostriatal dopaminergic system is lesioned in patients with progressive supranuclear palsy (as in those with Parkinson's disease) but not the mesocortical and mesolimbic dopaminergic systems, which are lesioned in parkinsonian patients. CAT activity and [3H]spiperone binding decreased in parallel fashion in all the structures. In the striatum, this suggests that the cholinergic neurons, which are target cells of the nigrostriatal system, also degenerate in this disease. This might explain the decrease in the number of dopamine receptors as well as the inefficacy of levodopa or anticholinergic therapy in these patients. The decrease in CAT activity in the substantia innominata and the frontal cortex indicates that the innominatocortical cholinergic system is lesioned in patients with progressive supranuclear palsy and may play a role in the intellectual deterioration observed. This lesion is also found in demented patients with Alzheimer's and Parkinson's diseases.