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Biomedical subjects

F Hentati

Publications and source records attributed to F Hentati.

104 records · Page 6Linked to original sources
PubMed1988

[Chronic proximal spinal amyotrophies in Tunisia. Clinical, genetic, epidemiologic and histopathologic study].

The results of a clinical, pathological, genetic and epidemiological study of 101 cases of chronic proximal spinal muscular atrophy are reported. Ages at onset allow to distinguish clearly an infantile, a juvenile and an adult groups. The infantile and juvenile groups comprising 93 p. 100 of the patients, were characterized by onset before the age of 20 (54 p. 100 before age 5) and by a large intra- and interfamilial clinical variability. The severity of the disease was unrelated either to sex or the sporadic or familial nature of the disease. On the other hand it was closely related to age at onset and to the pathology of the muscles. There seems to be no genetic heterogeneity in this group. Inheritance is of the autosomal recessive type in the great majority of cases. Certain sporadic cases may be due to a dominant mutation or to a phenocopy, as suggested by segregation analysis. The adult group, comprising 6 patients, included 4 cases of autosomal dominant inheritance without consanguinity of the parents, and one case of dominant inheritance.

Adolescent↗
PubMed1987

Hypertrophic neuropathy in spinocerebellar degeneration. Morphological study of the superficial peroneal nerve in fourteen cases.

Fourteen patients belonging to eight families were studied. At least one member of each family presented a clinical picture of spinocerebellar degeneration (SCD) and lowered motor nerve conduction velocity (MNCV). Muscular atrophy of the Charcot-Marie-Tooth type was found in 11 cases. The average MNCV of the median nerve was less than half the value in the controls (P less than 0.001). Morphometric analysis of the superficial peroneal nerve showed a considerable reduction (P less than 0.001) in myelinated fibres, primarily those of large diameter (P less than 0.001), a high average density of onion bulb formations, and a large percentage (P less than 0.001) of teased fibres showing aspects of segmental demyelination, with or without remyelination. These results indicate the presence of a hypertrophic neuropathy (HN) associated with the SCD. In most cases, this HN bore the electrophysiological and morphological features of type I hereditary motor and sensory neuropathy. In certain cases, however, there was an individual and intra-familial discordance of the electrophysiological and histological aspects, which may correspond to a difference in phenotypic expression, or to mutant genes. It is possible that a single disease is involved, assuming the clinical appearance of both SCD and HN, the biochemical support of which remains to be determined.

Adolescent↗
PubMed1987

Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis.

Analysis of the superficial peroneal nerve sampled in 9 cases of classical amyotrophic lateral sclerosis (classical ALS, Charcot disease) and compared with 8 age-matched controls showed a very significant reduction of all myelinated fibres (P less than 0.001), affecting small-diameter (P less than 0.01) and large-diameter (P less than 0.02) fibres. Moreover, the small-diameter unmyelinated fibres were very significantly reduced (P less than 0.001) and the large-diameter fibres were highly increased (P less than 0.01). These results suggest a phenomenon of chronic axonal degeneration. Analysis of the same nerve in 7 patients suffering from juvenile ALS and compared with 4 age-matched controls showed a significant reduction (P less than 0.05) of myelinated fibres. The small-diameter and overall unmyelinated fibres were not significantly reduced while the large-diameter fibres, were significantly increased (P less than 0.01). The same analysis of 4 patients presenting an early-onset ALS compared with 3 controls showed lesions of a severity half-way between that of the classical and the juvenile form. Our study showed that the lesions of the sensory nerve are of the same type in classical ALS and in juvenile ALS, but of differing severity. The nosologic place of juvenile ALS compared with classical ALS and with heredodegenerative diseases of the nervous system is discussed.

Adolescent↗
PubMed1987

Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons.

Preparations derived from embryonic and neonatal chick muscle enhance neurite outgrowth when added to cultures of embryonic chick spinal neurons. In the presence of soluble extracts of biopsied muscle from 15 of 20 patients with spinal muscular atrophy (SMA), the in vitro neurite-promoting activity of neonatal chick muscle was inhibited. There was no comparable inhibition using extracts from 20 age-matched pathologic or morphologically normal controls. The neurite-promoting activity in media conditioned by embryonic myotubes was not inhibited by extracts of the SMA group.

Animals↗
PubMed1987

[Multiminicore disease in a rigid spine syndrome].

The case of a 15 year-old girl, who had difficulties in walking from early childhood is reported. The clinical picture was that of the rigid spine syndrome, spine rigidity being associated with retractions and diffuse amyotrophy of the upper limbs. Histochemical and ultra-structural studies of the muscle showed typical multiminicores. The multiminicore myopathy has not particular clinical features. In the rigid spine syndrome various histological changes can be found. For these reasons, we think that the rigid spine syndrome should be classified within the group of congenital myopathies.

Adolescent↗
PubMed1986

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.

Cerebellar Diseases↗
PubMed1985

Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.

Four siblings of a family of 11 were afflicted with a predominant parkinsonian syndrome, pyramidal signs, intellectual deterioration, and peripheral neuropathy. Symptoms were noticed first when they were aged 8 years; the condition was slowly progressive. All presented similar clinical features of varying severity. Nerve and muscle biopsies of two patients exhibited inclusions of concentric lamellae 2 nm thick with a periodicity of 3.6 nm, in the cytoplasm of perineurial and Schwann cells, endothelial cells and pericytes of blood capillaries, and muscle satellite cells. These inclusions differ in their location and morphological features from other inclusions that have been described in nerve and muscle biopsies of many disorders. The features of these inclusions suggest that they may represent a storage deposit whose nature could not be determined. They may be a distinguishing morphological feature of a multisystem disorder which to our knowledge has not been identified previously.

Adult↗
PubMed1984

[Charcot's disease and juvenile amyotrophic lateral sclerosis].

The authors studied 102 clinical observations of patients presenting the symptoms of amyotrophic lateral sclerosis (Charcot's disease). Two distinct groups were discerned from an analysis of the ages of onset: the first group, comprising 20 patients, represents the juvenile form, with onset before the age of 30. The second group (82 patients) represents the classic form of Charcot's disease. Generally speaking, the adult group is identical to that reported in the literature since Charcot first described amyotrophic lateral sclerosis. The incidence is greater in males. Hyperproteinorachia is frequent. No local etiologic cause has been identified. The apparent incidence of the disease in the regions of Tunis and Nabeul is 0,45 per 100 000 inhabitants per year. The juvenile form is characterized by a relative frequency of the familial form (30 p. 100), a possible association with particular sensory symptoms, and a slow evolution. Hypoproteinorachia is relatively frequent. The authors discuss the relations between these two groups of amyotrophic lateral sclerosis. Are they two different expressions of the same disease, or are they two different diseases?

Adult↗
PubMedDate not supplied

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene.

Schwartz-Jampel syndrome (SJS) is an autosomal recessive human disorder characterized by myotonia and osteoarticular deformities. Three types are distinguished based on age at onset: types 1A, 1B and 2. We have previously localized the SJS1 gene, responsible for types 1A and 1B, on human chromosome 1p35-p36.1 in a region frequently rearranged in human tumours. The CDC42 gene, for which divergent localizations have previously been described (chromosomes 4, 7 and 20), has been mapped within the SJS1 critical interval by radiation hybrid and yeast/P1 artificial-chromosome-based physical map analyses. The CDC42 gene product is a small GTPase protein of the Rho family mediating a variety of signaling pathways including cytoskeletal rearrangements, cell-cycle progression and transformation. To search for mutations in SJS1 patients, we have determined the organization of the human CDC42 gene on chromosome 1p and found that it encodes for the placental and brain isoforms generated by alternative splicing. No mutations have been found in SJS1 patients, excluding CDC42 as the SJS1 gene. Interestingly, we have demonstrated that a CDC42-like transcript gene located on chromosome 4 does not contain introns and is similar to the placental isoform, suggesting that it is a processed pseudogene. The determination of the CDC42 gene structure described in this report should facilitate future studies of the potential role of CDC42 in human disorders.

Amino Acid Sequence↗