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J Lapresle

Publications and source records attributed to J Lapresle.

At least 19 recordsLinked to original sources
PubMed1999

The Roussy-Lévy family: from the original description to the gene.

In 1926, Roussy and Lévy described a large family whose members manifested an early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss. Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lévy syndrome (RLS) being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1). In the present article, we report on the long-term follow-up, on nerve biopsy findings, and on the underlying molecular genetic defect in members of the original family studied by Roussy and Lévy. All patients were able to walk during their seventh decade of life. Morphologically, a chronic demyelinating neuropathy with the remarkable aspects of a focally hypertrophic myelin sheath and major loss of myelinated fibers was observed in nerve biopsy specimens of 3 members of this family. Molecular genetic testing identified a previously unknown heterozygous missense point mutation which yielded an Asn131Lys substitution in the extracellular domain of the myelin protein zero (P0). These findings show that the Roussy-Lévy family belongs to the CMT-1B subtype and has original morphological and genetic features.

Aged↗
PubMed1991

[Sensory syndrome of the cheiro-oral area due to a local lesion of the thalamus: contribution to the knowledge of the nervous system in humans].

A cheiro-oral syndrome with sensory disturbances of the hand or fingers and the corner of the mouth on the same side may be due to a contralateral thalamic lesion as demonstrated by carefully studied anatomoclinical cases. The lesion is situated in the inferior and internal part of the ventral posterolateral (VPL) nucleus and the most external part of the ventral posteromedial (VPM) nucleus. These data show that, on the thalamic homonculus, the representation of the hand (in the VPL nucleus) is in close contact by its radial edge with that of the corner of the mouth (in the VPM nucleus). They illustrate the interest of the anatomoclinical method for the knowledge of the CNS in man. Such contributions provide modern neurologic imaging technics with the necessary anatomical basis.

Female↗
PubMed1988

[Van Bogaert's cerebrotendinous xanthomatosis. A study of 3 cases].

The authors report three observations of cerebro-tendinous xanthomatosis (CTX). The three patients presented tendinous xanthoma and cataract. The neurologic disorders were different in each case. The first one, a 43 years old woman suffered from dementia, ataxia and pseudobulbar palsy: CT scan showed cerebellar hypodense lesions. After the apparition of bulbar signs ans cachexia she died at 45. The second patient, a 39 years old man had an ataxia and mild psychiatric disorders. He was stabilized with a treatment of chenodesoxycholic acid. The third one, a 49 years old women suffered only from tendinous xanthoma, cataract, and had no neurological disorder. His plasmatic cholestanol level was high. CTX is a recessive deficit of the hepatic 26 hydroxylase with deposits of abnormal metabolites in tendons, crystalline lenses and central nervous system. Reviewing the 44 observations of CTX in the literature, the authors define the genetical, clinical, biochemical and therapeutical aspects of CTX, and underline the necessity of a early diagnosis with cholestanol dosage, before the apparition of neurological disorders and the short terminal phase. CTX is a rare but fortunately treatable neurolipidosis.

Adult↗
PubMed1986

[Postmortem study of case I of the original family of Roussy and Melle Lévy].

Post-mortem examination of case I of Roussy and Lévy's original family shows an extensive Schwann cell proliferation with some onion bulb formations. This confirms that this family is suffering from a form of hypertrophic neuropathy. The author reaffirms his concept of Roussy-Lévy syndrome as an autonomous hypertrophic neuropathy. The following criteria seem to justify the autonomy of this syndrome: dominant transmission, very precocious onset, extreme slowness of the evolution, and remarkable benignity of the general prognosis.

Aged↗
PubMed1986

Cranial nerve ischaemic arterial syndromes. A review.

Topographical vascular disorders involving combinations of cranial nerves are reviewed in this study. These are indicated by the correspondence between groupings of clinical manifestations and anatomical vascular distributions. Confirmatory evidence is provided by mishaps, following diagnostic or therapeutic angiography. Three systems play a role in the vascularization of cranial nerves: the inferolateral trunk (ILT), most often arising from the internal carotid artery, the middle meningeal system (MMS), and the ascending pharyngeal system (APS); the latter two are both derived from the external carotid artery. Conclusions concerning the ILT are least definite because of variations in vascular territory and the lack of confirmation from embolic events in a vascular region that is rarely the site of embolization. The specific ILT territory includes cranial nerve III and also nerves IV, VI and V1. Knowledge of the vascularization of nerve III may furnish explanations as to its different modes of involvement in diabetes mellitus. For the MMS, the cranial nerves concerned are V2, V3 and VII. Two vascular territories for the intrapetrous portion of nerve VII are defined: the first (stylomastoid artery) is limited to nerve VII; the second (MMS) supplies VII and V. Two examples of involvement of VII and V following selective MMS embolization are presented. A study of Bell's palsy associated with nerve V impairment is summarized. The APS supplies nerves IX, X, XI and XII; XI has a dual vascularization which explains why it can either be spared (as was the case in an angiographic accident) or involved (as in a case of herpes zoster). A vascular mechanism should be considered when cranial nerve lesions occur in the syndromes described here.

Adult↗
PubMed1986

Palatal myoclonus.

This chapter concerns palatal myoclonus. Indeed Spencer's vivid nystagmus is now abandoned in favor of the less ambiguous myoclonus. The clinical data are reviewed: its appearance, rhythmic frequency, delay with respect to the causal lesion, resistance to most external influences, and possible associations. The most frequent lesion associated with this clinical phenomenon is a special type of degeneration with hypertrophy of the olivary nucleus of the medulla oblongata, on the side opposite the myoclonus when it is unilateral. This degeneration is usually secondary to a primary lesion, located either in the ipsilateral (to the hypertrophied olive) central tegmentum tract or in the contralateral dentate nucleus, through a specific dentatoolivary pathway. The probable existence of this pathway is confirmed by the demonstration of a topographic relationship between dentate nucleus and contralateral inferior olive and by its delineation in the vicinity of the red nucleus where the superior cerebellar peduncle crosses the central tegmental tract. The mechanisms of these lesions and their ensuing symptoms are discussed. It is suggested that there is a transsynaptic degeneration probably disclosing an archaic phenomenon. Few drugs influence this steady abnormal movement: 5-HTP and carbamazepine recently have been credited with some success.

5-Hydroxytryptophan↗
PubMed1986

[Motor symptomatology of the thalamus].

Muscular deficit, voluntary movement disorders, abnormal movements, and global disturbance of movements are considered. A muscular deficit is part of the Dejerine-Roussy syndrome. It appears as hemiparesis, regressive within days or weeks. A juxta-thalamic capsular involvement can be considered as the origin of this deficit in most cases, especially in hemorrhagic processes even if these are located within the thalamus, on account of mass effect. The occurrence of paresis or paralysis in ischemic processes strictly situated in the thalamus, however, is discussed: the deficit may be limited to parts of limbs; most often, it is not associated with pyramidal symptomatology; recovery is observed in the hand before the inferior limb. To these anatomoclinical facts some data from animal experiments or thalamic stereotaxic surgical procedures in humans must be added. A deafferentiation from the cortex seems to be the main cause of these motor disturbances. Three types of voluntary movement disorders may be encountered: contralateral cerebellar incoordination due to the involvement of the nucleus ventrooralis posterior where the superior cerebellar peduncle ends; homolateral imitative syncinesias, not confined to thalamic lesions, but frequently observed in this location with a particular aspect; contracture. Abnormal movements include choreoathetosic movements, and exceptionally intention and action tremor, and asterixis. They primarily involve the superior limb, but reported cases are not associated with thalamic limited lesions. Global disturbance of movements is observed in the hand or gait. "Thalamic hand" consists of incessant finger movements in the vertical and horizontal planes. They are associated with thalamic dystonia and deep sensibility disorder.(ABSTRACT TRUNCATED AT 250 WORDS)

Humans↗
PubMed1986

[Crow-Fukase syndrome (POEMS syndrome) and osseous mastocytosis secondary to Castleman's angiofollicular lymphoid hyperplasia].

In a case of Crow-Fukase (POEMS) syndrome there was a chronic, progressive, and eventually lethal polyradiculoneuropathy. In addition, adenomegaly, oedema and pleural effusions, gonadic atrophy, serum monoclonal IgA, and skin pigmentation were present. Plain x-rays and CT scan of the pelvis and lower vertebrae showed multiple poorly defined lesions. At postmortem there was no myeloma and a bone mastocytosis was found. In addition, next to T11, there was an abdominal nodule, 2 cm in diameter, with histological characteristics of Castleman's angiofollicular lymphoid hyperplasia. Immunohistochemical studies showed that plasmocytes of this lesion secreted polyclonal immunoglobulins with a high prevalence of IgA. Thus, the primary interest of this case lies in the association of bone mastocytosis with a POEMS syndrome. Also, one single localisation of Castleman angiofollicular lymphoid hyperplasia was found, assumed to be in this case the cause of the POEMS syndrome. Therefore, a minute and benign hyperplasic lesion, which was only discovered at autopsy, secreted the protein responsible for the symptoms and signs, and eventually the patient's death.

Aged↗
PubMed1985

[Pseudo-tumoral form of delayed radionecrosis of the brain].

A 60 year-old woman with a scalp epithelioma underwent radiotherapy, the dose being 57 Gray. A first epileptic seizure occurred twenty months later. Neurological examination revealed signs of left hemisphere involvement. gamma EG, angiography, CT scans, demonstrated a pseudotumoral avascular process. On account of the localisation, the patient being right-handed, no surgical procedure was performed. In spite of corticotherapy and anticonvulsive treatment, seizures recurred and neurological signs slowly progressed. The patient died, 22 months after the first seizure, of an associated disseminated carcinoma with cachexia. Neuropathological examination showed a massive lesion presenting all the features of delayed radionecrosis in the left hemisphere: situated mainly in the white matter; numerous vascular abnormalities; wide-spread demyelination; disappearance of oligoglial cells. The Authors recall the clinical and anatomical aspects of this condition for which the only successful treatment is surgical removal when location and size of the lesion permit. Finally, the mechanisms which have been proposed to explain this delayed cerebral radionecrosis are discussed.

Brain↗
PubMed1984

Pontine metastasis with dissociated bilateral horizontal gaze paralysis.

A clinicopathological case of pontine metastatic tumour is reported with an oculomotor syndrome including bilateral horizontal gaze paralysis affecting saccades and foveal pursuit. During full-field pursuit, oculocephalic movement, and after caloric stimulation, the right eye alone was able to move slowly only 30 degrees to the right of the midline. Convergence and vertical eye movements were unaffected in either eye. The lesion lay in the whole left pontine tegmentum and partly in the right pontine tegmentum which was also strongly compressed and displaced to the right. The bilateral horizontal gaze paralysis resulted from damage to both paramedian pontine reticular formations. The unusual combination of an absence of foveal pursuit with the persistence of a rightward full-field pursuit analysed in the light of recent experimental work, suggested a clear separation between the brainstem pathways of these two types of pursuit movement. Lastly, according to our data and other clinicopathological findings previously reported, it appeared also that the paramedian pontine reticular formation role in the triggering of voluntary vertical saccades is less significant in man than in the monkey.

Brain Neoplasms↗
PubMed1984

[Sex-linked, nonprogressive, familial chorea].

In a family, 4 patients on 3 generations have a non progressive chorea. One of them is epileptic and mildly retarded. Transmission appears to be X linked and recessive. This pattern introduces a new difficulty in the L dopa test for genetic prognosis.

Adolescent↗
PubMed1984

[Brown-Séquard syndrome caused by a spinal cord infarction].

A 77-year old woman presented a Brown-Séquard syndrome of sudden onset at level C4, and a few days later a tetraplegia. Postmortem findings demonstrated, at C3-C4, a left spinal cord infarct accounting for the Brown-Séquard syndrome, and a second C5-C6 bilateral infarct responsible for the tetraplegia. Alternating distribution of sulcal arteries explains the limitation of the first lesion to one half of the spinal cord.

Aged↗
PubMed1984

[Limited paralysis of the hand caused by metastasis in the motor cortex].

A 66-year old man presented a progressive motor deficit of the left hand mimicking radial and ulnar paralysis. Clinical examination, laboratory investigations, and post mortem findings, demonstrated a single metastasis in the contralateral motor cortex. The interest of this case lies in the discrepancy between the extent of the motor deficit and the size of the lesion. This finding could help to interpret current theories concerning the somatotopic representation on the motor cortex in man.

Aged↗
PubMed1982

[Chronic neurological syndrome resulting from intoxication with metallic uranium (author's transl)].

In 1972, a male patient, then 44-year-old, developed foot cramps and leg pain together with increasing gait disorders and a tendency to fall backwards. In 1976, an extrapyramidal syndrome with ataxia, nystagmus and peripheral neuropathy was discovered on neurological examination. The symptoms persisted and remained of obscure origin until 1979, when a detailed aetiological enquiry disclosed that during at least the first three years of his illness the patient had had on his desk a bar of metallic uranium which he frequently handled. Stool analysis showed significant uranium levels. In the absence of any other cause, it would appear that the neurological syndrome was due to intoxication with uranium. Although this had not been previously described in man, there are occasional reports of uranium toxicity in laboratory animals.

Adult↗
PubMed1982

[Roussy-Levy hereditary areflexic dysstasia. Its historical relation to Friedreich's disease, Charcot-Marie-Tooth atrophy and Dejerine-Sottas hypertrophic neuritis; the present status of the original family; the nosologic role of this entity].

This survey of Roussy-Lévy disease begins with an historical account of the three neurological conditions from which this entity has been separated: Friedreich disease, described in 1861-1863, which proved with time to be a genuine anatomoclinical disorder: Charcot-Marie-Tooth atrophy, described in 1886, particular because of its morphology and evolution but due to various processes: Dejerine-Sottas hypertrophic neuritis, described in 1893, which was the first variant to be individualized within the heterogenous group of primary and familial hypertrophic neuritis. The initial description of Roussy-Lévy disease--in 1926, 1932, and 1934--and the controversies raised by this concept are recalled as well as the present state of the original family: five out of seven members have been examined since 1956 and it has been demonstrated that they are suffering from a form of hypertrophic neuritis. However it is this author's opinion that the concept of an autonomous Roussy-Lévy disease within hypertrophic neuritis is justified by the following criteria: dominant transmission, very precocious onset, extreme slowness of the evolution, remarkable benignity of the prognosis.

Ataxia↗