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Biomedical subjects

M Ben Hamida

Publications and source records attributed to M Ben Hamida.

At least 55 records · Page 3Linked to original sources
PubMed1993

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

Autosomal recessive Charcot-Marie-Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myelin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13-21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(theta) = 9.19 at theta = 0.00 (95% confidence limit 0.00-0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders.

Age of Onset↗
PubMed1993

Prevalence study of neurologic disorders in Kelibia (Tunisia).

A full-scale survey, in Kelibia, Tunisia, screening 34,874 persons started on July 1, 1985. The accuracy of this survey was evaluated by a second survey using a randomized sample of 1,673 subjects (control survey). Better selection and training of the interviewers during the control survey led to a higher positive predictive value with no modification in prevalence ratios of neurologic disorders. The control survey helped to validate the full-scale survey data which were then used to establish the prevalence ratios of major neurologic disorders in Kelibia. Prevalence ratios, age-adjusted to the WHO population, were compared to those of studies using similar methodology. Migraine prevalence ratios in Nigeria, Ecuador, and Kelibia were equivalent. Epilepsy and Parkinson's disease prevalence ratios were close to those of other similar studies. The stroke prevalence ratio was low, compared to other studies, but was not the lowest. It seems that in Kelibia, stroke does not constitute a public health problem as it does in the USA or urban China. The large full-scale survey, in Kelibia, provided estimates of prevalence ratios for stroke, epilepsy, migraine and other common neurologic disorders for comparisons with other countries. However, definitions of neurologic disorders and diagnostic criteria differ from one study to another making difficult the comparison of results between different countries. Had the WHO protocol developed well-defined criteria and a standardized neurologic examining tool, more accurate comparisons could have been made.

Adult↗
PubMed1993

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing evidence for nonallelic genetic heterogeneity for the FA clinical phenotype. On subsequent analysis, all patients had very low levels of serum vitamin E whereas the parents and healthy sibs had normal vitamin E levels. This establishes that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two families reported here with the FA phenotype.

Adult↗
PubMed1992

Childhood peripheral neuropathy with autoantibodies to myelin glycoprotein P0.

The serum of a 4-year-old child with severe hypertrophic peripheral neuropathy contained high-titer polyclonal antibodies, mainly of IgG class, reacting with the 30-kd P0 glycoprotein of peripheral nerve. This was demonstrated by indirect immunofluorescence, immunoblot analysis of myelin proteins, and enzyme-linked immunosorbent assay with purified P0 glycoprotein. The antibodies did not react with myelin-associated glycoprotein, sulfated glycuronic acid-containing paragloboside (SGPG and SGLPG), or other peripheral nerve glycolipids or gangliosides. To our knowledge this is the first report of strong antibody activity specifically directed against P0. This antibody may play a causative role in the pathogenesis of the peripheral neuropathy in this patient.

Autoantibodies↗
PubMed1992

Evolution of muscle specific proteins in Werdnig-Hoffman's disease.

The pattern of expression of desmin, vimentin, titin and different myosin isoforms expressed in atrophic and hypertrophic type I and type II muscle fibers was investigated in 7 biopsies from patients of various ages all diagnosed as suffering from Werdnig-Hoffman's disease. The results revealed that there was a progressive atrophy affecting both type I and type II muscle fibers. The proportion of atrophic type II fibers increased with age. These atrophic fibers expressed predominantly fast MHC together with variable amounts of embryonic and fetal abnormal concentrations of desmin, vimentin and titin were also observed in some of these fibers. Hypertrophic type I fibers expressed exclusively slow MHC. These results are in good agreement with the hypothesis that Werdnig-Hoffman's disease is associated with a persistence of slow twitch type I motor units and a loss of phasic type II motor units. They also confirm that the atrophic fibers were frequently immature although embryonic MLC was never detected in these muscles. In addition we have demonstrated that the hypertrophic fibers were not completely normal since they frequently contained abnormal concentrations of desmin and titin at their periphery.

Atrophy↗
PubMed1992

Duchenne muscular dystrophy in Tunisia: a clinical and morphological study of 77 cases.

Two types of progressive muscular dystrophy occur in Tunisian children. The first type is characterized by normal dystrophin assays and affects girls and boys in an autosomal recessive pattern of inheritance. The second type has the features of the typical Duchenne muscular dystrophy (DMD) and has abnormal dystrophin. Between 1974 and 1986, 77 patients with Duchenne muscular dystrophy were examined, 66 were biopsied. Among affected siblings and within family kindreds, we observed both clinical and histopathological variability. However, there was a close correlation between the clinical condition and the biopsy findings in each case, allowing accurate prediction of the patient's course and probable duration of the disease.

Adolescent↗
PubMed1992

Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum.

We describe the histomorphometric changes in the superficial peroneal nerve biopsy from 13 patients with xeroderma pigmentosum (XP). The mean age at time of biopsy was 15 yr (range 2.5-24 yr). The clinical examination was normal in the two youngest patients and showed absence of the deep tendon reflexes, with choreo-athetosis in ten patients. In addition, in the three oldest patients there were cerebellar signs, ataxia and Babinski signs. The nerve biopsy showed an age-dependent decrease of myelinated fibres, which was mild in the youngest and severe in the oldest patients. This was associated with rare acute axonal degeneration, sparse axonal regeneration, rare axonal atrophy and few onion bulb formations. These findings suggest a neuropathic process. This neuronal degeneration seems to be a progressive and stereotyped phenomenon in XP.

Adolescent↗
PubMed1992

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

Centromere↗
PubMed1992

[Candida albicans meningitis and neurosarcoidosis].

We report a clinico-pathological case of neurosarcoidosis characterized by chronic meningitis, intracranial hypertension, bilateral optic atrophy, arthritis and enlargement of liver and lung hilar nodes. Synovial and supraclavicular node biopsies showed multiple non caseating nodules without tubercle bacilli, Candida albicans and Cryptococcus neoformans. Post-mortem examination showed a severe meningeal lymphoplasmocytic infiltration with numerous non-caseating nodules, several giant cells and presence of Candida albicans. There were also a periventricular infiltration of similar cells and numerous cerebral and cerebellar infarctions. We think that the Candida albicans meningitis was a consequence of the immunodepression of sarcoidosis and of corticosteroid therapy.

Adult↗
PubMed1992

[Antenatal bilateral sylvian infarction and congenital syphilis].

BACKGROUND: The classical symptoms of congenital neurosyphilis include meningovascular lesions that are responsible for CSF abnormalities. Lesions of larger vessels are very unusual. CASE REPORT: A boy was born from a neglected pregnancy, weighing 2.7 kg. He was abandoned by his parents and was admitted to hospital at 40 days of age (weight: 2,220 g; height: 47 cm; head circumference: 22 cm) with axial hypotonia, peripheral spasticity and shock syndrome. The TORCH screen was negative but the Treponema Pallidium Hemagglutination Assay (TPHA) was positive. The infant died 4 days later. Brain pathological studies revealed meningoencephalitis and bilateral sylvian infarction. CONCLUSION: Local arteritis due to syphilis usually concerns small arteries, such as the meningeal and cortical vessels. The occlusion of the two middle cerebral arteries seen in this patient, which were responsible for atrophy of the parietal lobes, is uncommon in congenital syphilis.

Cerebral Arteries↗
PubMed1992

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.

Adolescent↗
PubMed1992

[Juvenile amyotrophic lateral sclerosis. Study of 43 cases].

The authors reported 17 cases of common form of juvenile amyotrophic lateral sclerosis (ALS), 14 cases with spastic paraplegia and peroneal atrophy, and 12 other cases belonging to one single family with spastic pseudo-bulbar paraplegia. The absence of sensory disturbances, the normal motor and sensory conduction velocities, the normal feature of sensory nerve biopsy allowed to include these 3 groups of patients in the frame of Juvenile ALS which is chronic and benign disease. The authors discussed these observations on the light of the literature data on familial spastic paraplegia and primary lateral sclerosis.

Adolescent↗