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Biomedical subjects

J Julien

Publications and source records attributed to J Julien.

At least 19 recordsLinked to original sources
PubMed1992

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn178 mutation and the methionine-valine polymorphism at codon 129. The Met129, Asn178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val129, Asn178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.

Adult↗
PubMed1992

Foret1, a reverse transcriptase-like sequence in the filamentous fungus Fusarium oxysporum.

We report here the isolation of Foret1, a repeated DNA sequence cloned from the fungal plant pathogen Fusarium oxysporum. This clone exhibits a high degree of sequence similarity with the retroviral pol genes. Sequences homologous to protease, reverse transcriptase, ribonuclease H are found in that order. The overall structure is homologous to the 'gypsy' class of LTR-retrotransposons. Its similarity to elements present in widely different organisms may result from its horizontal transmission in recent evolutionary time.

Amino Acid Sequence↗
PubMed1992

Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I.

In three children with dominant hereditary motor and sensory neuropathy type I, peripheral nerve biopsy showed the classical lesions of segmental demyelination with remyelination and onion bulb formations. In two cases, ultrastructural examination also demonstrated numerous characteristic features of active demyelination. The presence of active demyelinating lesions suggests an autoimmune attack superimposed on the course of a chronic genetic disease.

Child↗
PubMed1992

Morphological findings on peripheral nerve biopsies in 15 patients with human immunodeficiency virus infection.

A peripheral nerve biopsy was performed in 15 patients with human immunodeficiency virus (HIV) infection and polyneuropathy. Two cases [1 asymptomatic, 1 AIDS-related complex (ARC)] presented with chronic inflammatory demyelinating polyneuropathy; there was 1 case (asymptomatic) of mononeuropathy multiplex and 12 cases (1 asymptomatic, 1 ARC, 10 AIDS) with distal symmetrical polyneuropathy. Epi- or endoneurial microvasculitis was observed in 6 cases. Electron microscopy showed that nerve fiber lesions were mainly axonal. Severe segmental demyelination was also present in both cases of chronic inflammatory demyelinating polyneuropathy, with characteristic features of active demyelination in one. Numerous plasmacytoid cells were found in the endoneurium in 4 patients. Tubuloreticular inclusions were present in endothelial cells in the 10 cases with AIDS but absent in the other patients. Direct immunopathological examination with anti-immunoglobulin sera was negative in all cases. HIV was evidenced by in situ hybridization in 2 AIDS patients; no Epstein-Barr virus or cytomegalovirus was detected.

Adult↗
PubMed1992

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal muscular atrophy (SBMA or Kennedy disease). We have analysed a large 4-generation SBMA family and found that the mutant allele was unstable upon transmission from parent to child, with a documented variation from 46 to 53 repeats and a tendency to increase in size (7 increases and a single decrease in 17 events), which appeared stronger upon transmission from a male than from a female. Our results suggest also limited somatic instability of the abnormal allele, with observable variation of up to 2-3 repeats. This indicates that the behavior of the CAG repeat is similar to that observed for small premutations in the fragile X syndrome, or small abnormal alleles in myotonic dystrophy, two diseases which are caused by expansion of an unstable trinucleotide repeat.

Alleles↗
PubMed1992

Unilateral diaphragmatic paralysis: an electrophysiological study.

An electrophysiological study was carried out on four patients with unilateral diaphragmatic paralysis. Whereas neurogenic involvement of the paralysed hemidiaphragm was roughly similar in all cases, neurogenic patterns could be detected in the normally moving contralateral hemidiaphragm in three cases, and the degree of involvement could be correlated with the respiratory state of the patients. EMG also showed that the neuropathic process affected the limb muscles. Thus unilateral diaphragmatic paralysis may be, at least in some cases, the localised expression of a more diffuse neuropathy, perhaps a peculiar form of neuralgic amyotrophy.

Adult↗
PubMed1992

Analysis of the prion protein gene in thalamic dementia.

Thalamic degenerations or dementias are poorly understood conditions. The familial forms are (1) selective thalamic degenerations and (2) thalamic degenerations associated with multiple system atrophy. Selective thalamic degenerations share clinical and pathologic features with fatal familial insomnia, an autosomal dominant disease linked to a mutation at codon 178 of the prion protein (PrP) gene that causes the substitution of asparagine for aspartic acid (178Asn mutation). We amplified the carboxyl terminal coding region of the PrP gene from subjects with selective thalamic dementia or thalamic dementia associated with multiple system atrophy. Three of the four kindreds with selective thalamic dementia and none of the three kindreds with thalamic dementia associated with multiple system atrophy had the PrP 178Asn mutation. Thus, analysis of the PrP gene may be useful in diagnosing the subtypes of thalamic dementia. Moreover, since selective thalamic dementia with the PrP 178Asn mutation and fatal familial insomnia share clinical and histopathologic features, we propose that they are the same disease.

Base Sequence↗
PubMed1992

Dystrophin.

Explore the source record for details and available documents.

Dystrophin↗
PubMed1992

[Autosomal dominant centronuclear myopathy].

In a family 6 members in 3 generations were affected by centronuclear myopathy (CNM) of autosomal dominant inheritance. The apparent onset was in the early forties and the disease progressed slowly. Limb weakness was predominant. Strabismus was present in 5 cases and calves hypertrophy in 3. Serum creatinine kinase was always within the normal range. In one case myotonic bursts were found at electromyography. In 2 cases brain stem auditory evoked potential studies demonstrated abnormal prolongation of interpeak latencies I-III and favoured subclinical nervous system involvement. Muscular biopsies showed typical features of centronuclear myopathy with 50 to 80% central nuclei. In two cases immunocytochemical labelling of dystrophin showed staining in the sarcoplasm in favour of an arrest in the morphogenesis of developing myofiber. Others families with autosomal dominant CNM in the literature and also some sporadic adult cases had similar clinical features.

Adult↗
PubMed1992

[Left ventricular involvement in Conn adenoma, renovascular hypertension and pheochromocytoma before and after etiological treatment].

AIM OF THE STUDY: Assessment of left ventricular (LV) structural modifications following etiologic treatment of secondary hypertension, in a group of 43 patients. PATIENTS AND METHODS: M-Mode echocardiograms were independently analysed by 2 trained investigators before and 7.4 months (RV), 11 patients with COnn's adenoma (C) and 9 patients with phaeochromocytoma (PH). RESULTS: Age, sex ratio, antihypertensive treatment, and duration of hypertension before treatment were comparable among the 3 groups. Blood pressure was higher in C and RV than in PH for casual (C: 190/116; RV: 193/109; PH: 146/91; p < 0.01/0.05) as well as ambulatory blood pressure (C: 140/93; RV 153/89; PH: 126/80; p < 0.01/0.05). Before etiologic treatment, systolic function was normal in the 3 groups whereas LV mass index differed between the 3 groups (C: 147; RV: 118; PH: 85 g/m2). LV end diastolic diameter index was smaller in PH (26.4 mm/m2) than in C (29.1) and RV (28.8). After treatment, there was a significant reduction on office (C: -43/-20; RV: -39/-19; PH: -20/-12 mmHg) and ambulatory (C: -6.6/-5.6; R: -20/-9.9; PH: -4.7/- 4.5) blood pressure. Systolic function was not altered. LV mass index was significantly reduced in C and RV but not in PH (C: -18%; RV: -7%; PH: -5%). Changes in LV end diastolic diameter index were not significant (C: -2%; RV: 0%; PH: + 6%). There was no correlation between LV mass index changes and blood pressure differences. CONCLUSION: Etiologic treatment leads to significant regression of LV hypertrophy in patient with renovascular hypertension or Conn's adenoma, at least partly independently of blood pressure change. Humoral and volume factors may play a role in LV regression.

Adrenal Gland Neoplasms↗
PubMed1991

Delayed onset movement disorders as a complication of central pontine myelinolysis.

This report describes a case of central pontine myelinolysis occurring after a rapid correction of profound hyponatremia. Delayed-onset generalized dystonia and choreoathetosis then appeared. A small pontine myelinolysis was demonstrated by magnetic resonance images, but striatal myelinolysis could not be established. Aspects of movement disorders associated with the osmotic demyelination syndrome are briefly reviewed and discussed.

Athetosis↗
PubMed1991

Jaw dystonia triggered by biting into hard food.

We report an unusual case of eating dystonia induced by attempts to bite into hard food and resulting in prolonged jaw opening spasms. Mastication was severely impeded. Simultaneous bilateral electromyogram (EMG) of the masticatory muscles during mastication of hard food showed an abnormal prolonged activity in the anterior digastrics with an abnormal cocontraction of these muscles during contraction of the jaw-closers and a prolonged inhibition of the jaw-closers until the hard bolus was softened. This action dystonia seems to be triggered when more than a certain pressure is exerted on the peridontal mechanoreceptors and could result from a defective central command control of their sensory inputs. Local injections of botulinum toxin had little effect.

Bite Force↗
PubMed1991

[Sensory neuropathy and subacute dysautonomia. Clinical and pathological study].

We report a case of severe subacute autonomic and sensory neuropathy in a 52 year-old man. Cerebrospinal fluid protein was 275 mg/dl. Electrophysiological data were consistent with an axonal sensory neuropathy. Nerve biopsy showed a severe decrease in myelinated fibers, and a less severe loss of unmyelinated fibers. No cause was found and recovery was almost complete over 4 years, with minimal persistent dysautonomia. This case and 4 similar reported cases are compared with pure dysautonomia and with sensorimotor dysautonomic neuropathy. The site of damage is discussed and it is suggested that these cases are axonal forms of inflammatory polyneuropathy.

Autonomic Nervous System Diseases↗