B. Defontaines - Academia.edu (original) (raw)
Papers by B. Defontaines
Cet article est publié avec le soutien des laboratoires Eisai.
Revue Neurologique, 2002
Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease ... more Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease caused by a defective alpha oxidation of a C20 fatty acid: the phytanic acid. Deficiency of a peroxysomal enzyme called "Phytanoyl-Co-A alpha hydroxylase" leads to an accumulation of phytanic acid. The clinical picture include retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Firstly described in 1946 by Sigvald Refsum, dietary treatment leads to an improvement of neurological symptoms but does not affect retinal changes. To our knowledge, there is no data in the literature on long term follow-up. A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis. The phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy. This observation is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairmen...
The Journal of Nutrition, Health and Aging, 2009
Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary gr... more Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary group of specialists in geriatrics, neurology, epidemiology, psychiatry, neuroradiology and nuclear medicine met with the aim of drawing up references on the methods for diagnosing and treating mild Alzheimer's disease. The critical analysis of international literature, conducted by Professor Bruno Vellas for the scientific committee, has served to support study of the latest knowledge in 2008. The multi-disciplinary group met on 14 and 15 May 2008 in order to set out the questions that this study must answer and to allocate draft studies. Thus, it has been possible to conduct a study focused on mild Alzheimer's disease, giving particular attention to diagnostic procedure, specific methods of treatment and the benefits of making a diagnosis.
Advances in neurology, 1995
Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] be... more Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] behavior [and cognition]| behavioral disturbances and focal lesions of the basal ganglia [inertia, affective state, frequency of behavioral changes, stereotyped activities and ...
La Revue du praticien, 1998
Advances in neurology, 1995
Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] be... more Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] behavior [and cognition]| behavioral disturbances and focal lesions of the basal ganglia [inertia, affective state, frequency of behavioral changes, stereotyped activities and ...
NeuroImage: Clinical, 2014
In Alzheimer3s disease (AD), the hippocampus is an early site of tau pathology and neurodegenerat... more In Alzheimer3s disease (AD), the hippocampus is an early site of tau pathology and neurodegeneration. Histological studies have shown that lesions are not uniformly distributed within the hippocampus. Moreover, alterations of different hippocampal layers may reflect distinct pathological processes. 7 T MRI dramatically improves the visualization of hippocampal subregions and layers. In this study, we aimed to assess whether 7 T MRI can detect volumetric changes in hippocampal layers in vivo in patients with AD. We studied four AD patients and seven control subjects. MR images were acquired using a whole-body 7 T scanner with an eight channel transmitreceive coil. Hippocampal subregions were manually segmented from coronal T2*-weighted gradient echo images with 0.3 × 0.3 × 1.2 mm 3 resolution using a protocol that distinguishes between layers richer or poorer in neuronal bodies. Five subregions were segmented in the region of the hippocampal body: alveus, strata radiatum, lacunosum and moleculare (SRLM) of the cornu Ammonis (CA), hilum, stratum pyramidale of CA and stratum pyramidale of the subiculum. We found strong bilateral reductions in the SRLM of the cornu Ammonis and in the stratum pyramidale of the subiculum (p b 0.05), with average cross-sectional area reductions ranging from −29% to −49%. These results show that it is possible to detect volume loss in distinct hippocampal layers using segmentation of 7 T MRI. 7 T MRI-based segmentation is a promising tool for AD research.
Neuroscience, 1992
transplantation provides an interesting way to observe the relationships between develop~g cells ... more transplantation provides an interesting way to observe the relationships between develop~g cells and ingrowing host afferents. We have performed a complete and selective elimination of the mesostriatal dopaminergic system in adult rats to observe the influence of its absence on the development and chemical differentiation of embryonic striatal cells.
Revue neurologique, 2003
We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon ... more We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon 178 of prion protein gene and by heterozygoty (Met/Val) at codon 129. The clinical picture included cerebellar ataxia, dysautonomia and frontal lobe syndrome. Prion protein gene analysis was performed in order to support a diagnosis of Creutzfeldt-Jakob disease and assert the diagnosis of fatal familial insomnia. Neuropathologic analysis showed unusual changes including severe neuronal loss in the inferior olive and the dentate nucleus, and absence of obvious lesions in the thalamus. Moreover, spongiform changes were moderate in the superior temporal cortex and the occipital cortex. There was no spongiform change in frontal cortex. Abnormal prion protein (PrP(res)) was mainly evidenced in the parietal cortex. Molecular genetic study of the PRNP gene should be performed in patients who present with a cerebellar ataxia of equivocal origin.
Revue Neurologique, 2009
ABSTRACT Le projet Calliope a été développé par la société Kappa Santé à destination des CMRR et ... more ABSTRACT Le projet Calliope a été développé par la société Kappa Santé à destination des CMRR et CM afin de recueillir des données épidémiologiques sur les patients souffrant de la maladie d’Alzheimer et des pathologies apparentées. L’objectif de cette analyse est de comparer les populations fréquentant les CM, CMRR et le centre Aloïs en Ile de France. Une extraction de la base a été réalisée le 1er avril 2009 pour 9 centres actifs de l’Ile de France (le réseau Aloïs : 1902 patients et 2295 consultations ; 7 CM : 4039 patients et 11007 consultations et le CMRR de la Pitié Salpétrière Paris : 8138 patients et 25463 consultations). Pour les 14079 patients, l’ancienneté moyenne du dossier est de 2,5 ans et en moyenne 2,8 consultations par patients ont été renseignées. A la 1ére consultation les patients ont en moyenne 70,3(± 14,2) ans au centre Aloïs, 77,2(± 10,6) ans dans les CM et 66,8(± 15,3) ans au CMRR (p<0,001). La proportion de femmes est de 65% au centre Aloïs, 66% dans les CM et 56% au CMRR (p<0,001). 70% des patients ont au moins un MMSE renseignée : au centre Aloïs la moyenne du 1er MMSE est de 24,6, elle est de 21,9 dans les CM et de 23,6 au CMRR (p<0,001). Le test du MMSE est fait lors de 71,2% des consultations au centre Aloïs, 65,2% des consultations en CM et 30,7% des consultations en CMRR. Le test IADL est fait durant 22,8% des consultations en CM. Le diagnostic principal est la maladie d’Alzheimer pour 33,3% des patients au centre Aloïs, 31,2% des patients des CM et 15,7% des patients du CMRR. La plainte mnésique concernant 4% des patients du centre Aloïs, 11% des patients fréquentant les CM et 17,4% des patients du CMRR. Le diagnostic de MCI est posé pour 17,4% des patients du centre Aloïs, 5,3% des patients des CM et 4,4% des patients consultant au CMRR. Cette étude montre des différences significatives entre les populations prises en charge en ville, dans le CM ou dans les CMRR.
The journal of nutrition, health & aging, 2009
Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary gr... more Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary group of specialists in geriatrics, neurology, epidemiology, psychiatry, neuroradiology and nuclear medicine met with the aim of drawing up references on the methods for diagnosing and treating mild Alzheimer's disease. The critical analysis of international literature, conducted by Professor Bruno Vellas for the scientific committee, has served to support study of the latest knowledge in 2008. The multi-disciplinary group met on 14 and 15 May 2008 in order to set out the questions that this study must answer and to allocate draft studies. Thus, it has been possible to conduct a study focused on mild Alzheimer's disease, giving particular attention to diagnostic procedure, specific methods of treatment and the benefits of making a diagnosis.
Cet article est publié avec le soutien des laboratoires Eisai.
Revue Neurologique, 2002
Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease ... more Refsum's disease (Heredopathia atactica polyneuritiformis) is an autosomal recessive disease caused by a defective alpha oxidation of a C20 fatty acid: the phytanic acid. Deficiency of a peroxysomal enzyme called "Phytanoyl-Co-A alpha hydroxylase" leads to an accumulation of phytanic acid. The clinical picture include retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Firstly described in 1946 by Sigvald Refsum, dietary treatment leads to an improvement of neurological symptoms but does not affect retinal changes. To our knowledge, there is no data in the literature on long term follow-up. A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis. The phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy. This observation is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairmen...
The Journal of Nutrition, Health and Aging, 2009
Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary gr... more Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary group of specialists in geriatrics, neurology, epidemiology, psychiatry, neuroradiology and nuclear medicine met with the aim of drawing up references on the methods for diagnosing and treating mild Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease. The critical analysis of international literature, conducted by Professor Bruno Vellas for the scientific committee, has served to support study of the latest knowledge in 2008. The multi-disciplinary group met on 14 and 15 May 2008 in order to set out the questions that this study must answer and to allocate draft studies. Thus, it has been possible to conduct a study focused on mild Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease, giving particular attention to diagnostic procedure, specific methods of treatment and the benefits of making a diagnosis.
Advances in neurology, 1995
Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] be... more Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] behavior [and cognition]| behavioral disturbances and focal lesions of the basal ganglia [inertia, affective state, frequency of behavioral changes, stereotyped activities and ...
La Revue du praticien, 1998
Advances in neurology, 1995
Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] be... more Abstract 1.[discusses] specific focal lesions in the basal ganglia and their effect on [human] behavior [and cognition]| behavioral disturbances and focal lesions of the basal ganglia [inertia, affective state, frequency of behavioral changes, stereotyped activities and ...
NeuroImage: Clinical, 2014
In Alzheimer3s disease (AD), the hippocampus is an early site of tau pathology and neurodegenerat... more In Alzheimer3s disease (AD), the hippocampus is an early site of tau pathology and neurodegeneration. Histological studies have shown that lesions are not uniformly distributed within the hippocampus. Moreover, alterations of different hippocampal layers may reflect distinct pathological processes. 7 T MRI dramatically improves the visualization of hippocampal subregions and layers. In this study, we aimed to assess whether 7 T MRI can detect volumetric changes in hippocampal layers in vivo in patients with AD. We studied four AD patients and seven control subjects. MR images were acquired using a whole-body 7 T scanner with an eight channel transmitreceive coil. Hippocampal subregions were manually segmented from coronal T2*-weighted gradient echo images with 0.3 × 0.3 × 1.2 mm 3 resolution using a protocol that distinguishes between layers richer or poorer in neuronal bodies. Five subregions were segmented in the region of the hippocampal body: alveus, strata radiatum, lacunosum and moleculare (SRLM) of the cornu Ammonis (CA), hilum, stratum pyramidale of CA and stratum pyramidale of the subiculum. We found strong bilateral reductions in the SRLM of the cornu Ammonis and in the stratum pyramidale of the subiculum (p b 0.05), with average cross-sectional area reductions ranging from −29% to −49%. These results show that it is possible to detect volume loss in distinct hippocampal layers using segmentation of 7 T MRI. 7 T MRI-based segmentation is a promising tool for AD research.
Neuroscience, 1992
transplantation provides an interesting way to observe the relationships between develop~g cells ... more transplantation provides an interesting way to observe the relationships between develop~g cells and ingrowing host afferents. We have performed a complete and selective elimination of the mesostriatal dopaminergic system in adult rats to observe the influence of its absence on the development and chemical differentiation of embryonic striatal cells.
Revue neurologique, 2003
We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon ... more We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon 178 of prion protein gene and by heterozygoty (Met/Val) at codon 129. The clinical picture included cerebellar ataxia, dysautonomia and frontal lobe syndrome. Prion protein gene analysis was performed in order to support a diagnosis of Creutzfeldt-Jakob disease and assert the diagnosis of fatal familial insomnia. Neuropathologic analysis showed unusual changes including severe neuronal loss in the inferior olive and the dentate nucleus, and absence of obvious lesions in the thalamus. Moreover, spongiform changes were moderate in the superior temporal cortex and the occipital cortex. There was no spongiform change in frontal cortex. Abnormal prion protein (PrP(res)) was mainly evidenced in the parietal cortex. Molecular genetic study of the PRNP gene should be performed in patients who present with a cerebellar ataxia of equivocal origin.
Revue Neurologique, 2009
ABSTRACT Le projet Calliope a été développé par la société Kappa Santé à destination des CMRR et ... more ABSTRACT Le projet Calliope a été développé par la société Kappa Santé à destination des CMRR et CM afin de recueillir des données épidémiologiques sur les patients souffrant de la maladie d’Alzheimer et des pathologies apparentées. L’objectif de cette analyse est de comparer les populations fréquentant les CM, CMRR et le centre Aloïs en Ile de France. Une extraction de la base a été réalisée le 1er avril 2009 pour 9 centres actifs de l’Ile de France (le réseau Aloïs : 1902 patients et 2295 consultations ; 7 CM : 4039 patients et 11007 consultations et le CMRR de la Pitié Salpétrière Paris : 8138 patients et 25463 consultations). Pour les 14079 patients, l’ancienneté moyenne du dossier est de 2,5 ans et en moyenne 2,8 consultations par patients ont été renseignées. A la 1ére consultation les patients ont en moyenne 70,3(± 14,2) ans au centre Aloïs, 77,2(± 10,6) ans dans les CM et 66,8(± 15,3) ans au CMRR (p<0,001). La proportion de femmes est de 65% au centre Aloïs, 66% dans les CM et 56% au CMRR (p<0,001). 70% des patients ont au moins un MMSE renseignée : au centre Aloïs la moyenne du 1er MMSE est de 24,6, elle est de 21,9 dans les CM et de 23,6 au CMRR (p<0,001). Le test du MMSE est fait lors de 71,2% des consultations au centre Aloïs, 65,2% des consultations en CM et 30,7% des consultations en CMRR. Le test IADL est fait durant 22,8% des consultations en CM. Le diagnostic principal est la maladie d’Alzheimer pour 33,3% des patients au centre Aloïs, 31,2% des patients des CM et 15,7% des patients du CMRR. La plainte mnésique concernant 4% des patients du centre Aloïs, 11% des patients fréquentant les CM et 17,4% des patients du CMRR. Le diagnostic de MCI est posé pour 17,4% des patients du centre Aloïs, 5,3% des patients des CM et 4,4% des patients consultant au CMRR. Cette étude montre des différences significatives entre les populations prises en charge en ville, dans le CM ou dans les CMRR.
The journal of nutrition, health & aging, 2009
Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary gr... more Under the auspices of the Societe Francaise de Geriatrie et Gerontologie, a multi-disciplinary group of specialists in geriatrics, neurology, epidemiology, psychiatry, neuroradiology and nuclear medicine met with the aim of drawing up references on the methods for diagnosing and treating mild Alzheimer's disease. The critical analysis of international literature, conducted by Professor Bruno Vellas for the scientific committee, has served to support study of the latest knowledge in 2008. The multi-disciplinary group met on 14 and 15 May 2008 in order to set out the questions that this study must answer and to allocate draft studies. Thus, it has been possible to conduct a study focused on mild Alzheimer's disease, giving particular attention to diagnostic procedure, specific methods of treatment and the benefits of making a diagnosis.