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Biomedical subjects

I Pénisson-Besnier

Publications and source records attributed to I Pénisson-Besnier.

11 recordsLinked to original sources
PubMed2004

[Distal myopathies].

Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative mutations. They are classified according to age at onset, mode of inheritance, and muscle groups initially involved into the following: Laing myopathy (infancy onset, autosomal dominant inheritance, onset in anterior compartment of legs) caused by mutations in a myosin gene (MYH7) on chromosome 14q; Nonaka myopathy (early adult onset, autosomal recessive inheritance, onset in anterior compartment of legs), identical to quadriceps-sparing familial inclusion myopathy, caused by mutations in the GNE gene on chromosome 9p-q; Miyoshi myopathy (early adult onset, autosomal recessive inheritance, onset in posterior compartment of legs) caused by mutations in the dysferlin gene on chromosome 2p; Welander myopathy (late adult onset, autosomal dominant inheritance, onset in hands) linked to chromosome 2p; Udd/Markesbery-Griggs myopathy (late adult onset, autosomal dominant inheritance, onset in anterior compartment of legs) caused by mutations in the titin gene on chromosome 2q. Except for Miyoshi myopathy, which has a striking elevated serum creatine kinase level and the typical findings of muscular dystrophy, most of the distal myopathies have normal or midly elevated creatine kinase levels and share the common pathologic feature of rimmed vacuoles.

Adolescent↗
PubMed2001

[Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations].

Multiple sclerosis (MS) has long been known to be associated with Leber's hereditary optic neuropathy (LHON), a disease caused by mitochondrial DNA (mtDNA) mutations. We have investigated the possible involvement of LHON mtDNA point mutations in MS. The study covered a group of 75 unrelated Caucasian patients, with the relapse-remitting or primary progressive form of MS, and a control group of 75 volunteers (matched for age, gender and ethnic origin). Mitochondrial DNA from each subject was examined for 4 primary LHON mutations (at nucleotide positions 3460, 4160, 11778 and 14484) and 7 secondary LHON mutations (at nucleotide positions 4216, 4917, 5244, 7444, 13708, 15257 and 15812) by means of restriction site polymorphism and sequencing techniques. None of the primary LHON mutations were detected in the MS patients or in the controls, whereas the proportion of individuals with secondary LHON mutations was identical (27 p. cent) in the two groups. A combination of 2 or 3 homoplasmic mutations, defining mtDNA haplogroups, was found in the majority of cases. Haplogroups J, T and X were not particularly associated with MS. The frequency of the 13708 mutation alone (haplogroup X), or associated with the 4216 mutation (haplogroup J), was somewhat higher (p=0.059) in the subgroup of MS patients with optic neuritis (ON). ON was the initial symptom in all but one of the patients with haplogroups J or X. No other correlation was found between MS phenotypes and mtDNA genotypes. Our observations confirm previous reports that neither primary nor secondary LHON mutations are involved in the development of MS. However, MS patients with haplogroups J or X appear to have a moderately higher risk of developing optic neuritis. Thus, a specific mtDNA background may be a predisposing genetic factor for optic nerve damage in MS patients.

Adult↗
PubMed1998

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage.

Adult↗
PubMed1998

Autosomal dominant late adult onset distal leg myopathy.

A distal myopathy characterised by an autosomal dominant inheritance, with clinical onset around the age of 60, early involvement of posterior leg and thigh muscles, and normal or slightly-elevated creatine kinase levels was identified in three members of a French kindred. Tibialis anterior muscles were involved only in the most severely-affected sibling. Histological features included large multiple nonrimmed vacuolation and focal intrasarcoplasmic masses which immunoreacted with the anti-desmin antibody. Cytoplasmic and intranuclear tubulofilamentous inclusions were observed by electron microscopy. The condition of this familial syndrome is discussed in relation to previously-identified autosomal dominant distal myopathies and inclusion body myopathies.

Age of Onset↗
PubMed1996

Cerebral venous thrombosis after myelography with iopamidol.

A young man developed intracranial hypertension immediately after myelography with non-ionic water-soluble contrast medium (iopamidol). Cerebral angiography showed extensive cerebral venous thrombosis. The common causes of thrombophlebitis were excluded. A relationship to the contrast medium was strongly suspected, since a similar case has been reported. The rheological properties and haemo-concentration induced by iopamidol could explain this complication.

Adult↗
PubMed1992

[Obsessive-compulsive behavior (arithmomania). Atrophy of the caudate nuclei].

We report the case of a 56-year-old woman who died after a 2.5 years progressive course of behavioral disorders associating severe obsessive-compulsive counting with disinhibition. Neuropathological examination showed severe gliosis of the caudate nuclei whereas the lentiform nuclei and frontal cortex were not involved. In contrast with previous reports, this case lacked psychic akinesia which is usually combined with obsessive-compulsive behavior. It is a further illustration of how subcortical lesions can produce a frontal like syndrome. It suggests a fundamental role of the caudate nuclei in the control of behavior.

Atrophy↗
PubMed1990

[Chronic encephalitis with mesencephalic predominance. A clinico-pathologic case].

A 70 year-old woman presented with a progressive supranuclear ophthalmoplegia, with "apraxia" of eyelid opening, axial akinesia and dementia. CT scan showed a mild cortico-subcortical atrophy and there was a high level of immunoglobulins, with an oligoclonal pattern, without cell reaction in the CSF. The patient died two years after the onset. Post-mortem examination, limited to CNS, showed subacute encephalitis confined to the tectal, pretectal, subthalamic areas and to Ammon's horns. These changes and their location were strongly suggestive of polioencephalomyelitis with or without cancer, in which such a prevalent midbrain involvement has been exceptionally described.

Aged↗
PubMed1989

[Clinico-pathologic case of slowly progressive herpes simplex encephalitis without temporal necrosis].

A case of herpes simplex encephalitis (HSE) is reported. The patient experienced short term memory disorders and irritability progressing over 3 months, without seizures or fever. The CSF was normal. CT showed a small low density area in the right posterior orbito-frontal region. At post-mortem examination, one month later, the temporal cortex appeared largely spared by necrosis, which involved the posterior orbito-frontal areas. Cowdry type A inclusions, herpes virus like particles and fluorescent reaction with HSV1 monoclonal antibodies strongly supported the diagnostic. Such atypical cases of long duration have apparently seldom been reported. They suggest that HSE should be considered in the differential diagnosis of a subacute encephalopathy.

Aged↗