[Recessively transmitted early epileptogenic encephalopathy in 2 families in an isolated population of the Valais (anatomo-pathological verification)].
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Autopsy↗
Biomedical subjects
G Pescia
Publications and source records attributed to G Pescia.
Early prenatal diagnosis of genetic microcephaly.
We report a new case of prenatal diagnosis of recessive microcephaly by ultrasound examination allowing termination of pregnancy at 25 weeks gestation.
Abortion, Induced↗
Mosaicism of dynein in spermatozoa and cilia and fibrous sheath aberrations in an infertile man.
Male patients displaying an immotile or almost immotile sperm population are the object of an interdisciplinary study concerning a ciliary mutant that induces the "Immotile-Cilia Syndrome". Development and function of both sperm flagella and cilia are normally affected because of disturbances of the 9 + 2-arrangement. During this program, clinical, physiological, genetical and ultrastructural investigations were done. The ultrastructure of immotile spermatozoa of an infertile man did not reveal inner and outer dynein arms. Lack of the ATPase dynein which is essential for movement of the 9 + 2-axoneme, is typical for the above syndrome. In addition, symmetry of the fibrous sheath of the spermatozoa was very abnormal. The pneumologist examined normal lung function, where the ultrastructure of the cilia of the nasal mucosa displayed the dynein arms. Analysis of family tree and chromosomes by the geneticist also gave a normal result. As revealed by this infertile patient it seems likely that expression of dynein must not be identical in both germ cells and somatic cells. Such variations are therefore regarded as additional forms of the "Immotile-Cilia syndrome". Asymmetric fibrous sheaths are thought to be a result of immotile spermatid flagella, leading to an abnormal arrangement of the accessory axonemal structures. Normal early spermatid flagella of man and rat show specific movements.
Adenosine Triphosphatases↗
[2 families of a Valaisan isolate with infantile epileptogenic encephalopathy].
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Brain Diseases↗
[Early repeated abortions and karyotypes. A cytogenic study of 80 consecutive couples (author's transl)].
The authors report the results of a cystogenic study of 80 couples (160 individuals) who had early repeated abortions. A significant karyotype abnormality was found in 5 per cent of the partners. Where a translocation of 2 heterological chromosomes is found in a partner, the recommendations is to attempt an antenatal diagnostic. Once a couple have had 2 abortions karyotype investigation is absolutely indicated.
Abortion, Habitual↗
[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].
The major form of familial hyperekplexia, a rare autosomal dominant disorder, is characterized by an abnormal startle reaction elicited by auditory and somatosensory stimuli, with transitory stiffness during the neontam period, followed later by falling attacks accompanied by momentary generalized muscular stiffness. Affected neonates occasionally have fatal hypertonia. The minor form is characterized only by an inconstant excessive startle response. We encountered a family in which three females presented with a partial or complete major form of the disease. All our patients were hyperreflexic, insecure gait was present in two subjects, without concomitant spontaneous nocturnal myoclonus. The pathophysiological basis of the hyperekplexia remains unclear. The abnormal startle reflex, probably related to the lack of inhibition by higher centers, is relayed in the caudal brainstem (ponto-medullary reticular formation), where bulbospinal motor efferents originate. Moreover, nonspecific changes such as large somatosensory evoked potentials and long-loop reflexes ("C-responses") may indicate increased cortical neuronal excitability. Polygraphic studies in these patients were normal. The locus of the major form of the disorder is located on chromosome 5q33-q35. Sequence analysis of the alpha 1 subunit of the inhibitory glycine receptor (GLRA1) revealed a mutation at the same codon 271 in several families (G1192A and G1192T). We analyzed this gene and found a G1192A mutation changing an ARG to a LEU codon in all three presented patients. Sporadic cases may represent new mutations or lack of penetrance in some family members. Only one of our three patients needed clonazepam. The diagnosis of this disorder rules out epilepsy, or psychogenic pathological startle reaction. Electrophysiological criteria are useful, however perinatal hypertonia or a tonic generalized spasm accompanied with falls following an abnormal startle reaction and genetic studies remain the diagnostic milestones of familial hyperekplexia.
Adolescent↗