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J F Foncin

Publications and source records attributed to J F Foncin.

At least 19 recordsLinked to original sources
PubMed2004

A Heidenhain variant of Creutzfeldt-Jakob disease: forensic implication.

To investigate whether typical clinical, diagnostic and neuropathological findings can be identified in a patient with a postmortem diagnosis of a Heidenhain variant of Creutzfeldt-Jakob disease (CJD). We report a new case of CJD in a rare variant. A man admitted to hospital with cefalea and vision disorder. Clinical and neurological examination showed headache, vision reduction, psychomotor anxiety and progressive torpor. The patient died 4 h after admission to hospital. The autopsy findings included marked encephalic vascular congestion. Hystoneurology examination showed no macroscopic anomaly. Microscopy findings included neuronal loss, gliosis in striate area with arachnoid cells and cerebellum microspongiosis. Creutzfeldt-Jakob disease is a rare neurodegenerative human disorder. The prion hypothesis as an explanatory model is currently favoured by majority of researchers. A disease course described by Heidenhain including the leading symptoms of a visual disorder and rapid progression. This report emphasize the multidisciplinary role (forensic, neurogenetic and neurohistologic) for diagnosis and to standardize a protocol to investigate.

Aged↗
PubMed2002

[De gustibus...].

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Alzheimer Disease↗
PubMed2000

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.

At least 30 different missense mutations have been identified within the presenilin 1 (PS1) gene in pedigrees transmitting familial Alzheimer's disease. The authors investigated the clinical and pathological features of affected members of two pedigrees segregating a PS1 Met146Leu mutation. Genetic relationships between these pedigrees can be effectively excluded on the basis of genealogical data and the fact that although the amino acid substitution is identical, the nucleotide mutations are different. The clinical picture shows remarkable similarities in the neurological and the neuropathological findings between the two pedigrees. This general clinical and pathological concordance argues that much of the disease phenotype arises directly from the effects of the amino acid substitution within the PS1 protein itself. Clinical differences could arise from a direct effect of the difference in base sequence or, alternatively, from the effect of genetic or environmental modifiers.

Alzheimer Disease↗
PubMed2000

[Idiopathic].

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Dystonia Musculorum Deformans↗
PubMed1999

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.

In five generations of the French M-E kindred, 11 members are now known to be or have been affected by a form of spongiform encephalopathy previously recorded as Gerstmann-Sträussler-Scheinker disease. Mean age at onset was 28 years (range 21-34 years). In six instances, these patients were hospitalized in psychiatric institutions with various diagnoses, the most frequent being mania or mania-like symptoms. Dementia occurred progressively after a lengthy course. Histological studies showed atrophy of the cerebellar molecular layer, which contained kuru and multicentric plaques labelled with anti-prion protein antibodies. Spongiosis was not prominent and remained largely limited to the periphery of plaques; it was more marked in the thalamus, where plaques were scarce. A 192 base pair (bp) insert (eight extra repeats of 24 bp) in the octapeptide coding region of the prion protein gene (PRNP) within a codon-129 methionine allele was found in four symptomatic subjects. Early age at onset, the prominence of psychiatric symptoms and the long course of the disease are noticeable clinical features in this family with an inherited prion disease due to a new insertional mutation in PRNP.

Adult↗
PubMed1998

Modifications of oligodendroglial cells in spongiform encephalopathies.

Although gray matter lesions involving neurones and astrocytes are prominent in human transmissible spongiform encephalopathies (TSE), white matter lesions have also been occasionally observed. Secondary (Wallerian) degeneration and direct myelin damage have been invoked, but the physiopathology of white matter involvement is still debated. We performed an immunohistochemistry study with anti-PrP antibodies of autopsy material of four patients with Creutzfeldt-Jakob disease (CJD), together with transmission electron microscopy (TEM) studies of conventionally processed biopsy specimens of the same patients. Light microscopy immunolabeling was observed as arrays adjacent to myelinic fibers and as a clumps adjacent to oligodendroglial nuclei; both cerebrum and cerebellum were involved. At the ultrastructural level, two types of intracellular inclusions were seen in the white matter. They were associated with dense lysosomes in oligodendroglial perikarya and in their processes. The inclusions were made of finely fibrillar, paracrystalline, amorphous, or densely osmophilic material. Thus, our findings may suggest that white matter involvement in spongiform encephalopathy is due to direct modifications of oligodendroglial cell associated with abnormal metabolism of PrP.

Aged↗
PubMed1998

[Irritation...].

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Adolescent↗
PubMed1997

Putative neurosurgical transmission of Creutzfeldt-Jakob disease with analysis of donor and recipient: agent strains.

A woman, aged 59 years, underwent a cortical biopsy that led to the diagnosis of Creutzfeldt-Jakob disease (CJD). A man, aged 46 years, underwent cranial surgery in the same department 3 days later for brain contusion, with an uneventful recovery. Twenty six months later, he developed clinical signs of CJD with a typical EEG pattern. Both cases exhibited features of the 'ataxic' form of the disease with depletion of cerebellar granule cells, without kuru plaques or PrP deposits. PrP deposits were immuno-histochemically observed in the cerebrum, spinal cord and peripheral nerve. Molecular genetic analysis performed on brain tissue revealed the codon 129 polymorphism to be Met129Met in the donor and Met129Val in the recipient. The shared 'cerebellar' phenotype and the genotypic discrepancy between the two patients lead us to postulate that the 'cerebellar' agent strain plays a major role in CJD phenotype and transmission.

Biopsy↗
PubMed1996

Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study.

The immunolocalization of presenilin in human brain was studied using two antibodies raised against different portions of presenilin 1 (S182) protein. A granular staining was found in the cytoplasm of neurons in cortical layers III and V. One of the antibodies, also reactive to presenilin 2 (E5-1) protein, additionally stained dendrites and axons. This was seen in normal brains as well as in brains affected by Alzheimer's disease. Less prominent immunolabeling was noted in some senile plaques. No relationship to neurofibrillary tangles was found in double-labeling experiments combined with anti-paired helical filament-tau antibody (AT8). The widespread expression of presenilin in normal brain suggests a physiological role of the protein.

Aged↗
PubMed1995

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.

Alzheimer Disease↗