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2.
J Neurol Sci ; 177(2): 124-30, 2000 Aug 15.
Article in English | MEDLINE | ID: mdl-10980308

ABSTRACT

Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS.


Subject(s)
Amyotrophic Lateral Sclerosis/genetics , Muscular Atrophy, Spinal/genetics , Adult , Age of Onset , Amyotrophic Lateral Sclerosis/pathology , Female , Humans , Male , Middle Aged , Muscular Atrophy, Spinal/pathology , Pedigree , Phenotype , Republic of Belarus , Rural Population , Spinal Cord/pathology , Superoxide Dismutase/genetics
3.
Arkh Patol ; 61(2): 34-7, 1999.
Article in Russian | MEDLINE | ID: mdl-10412586

ABSTRACT

One clinical and pathomorphologic case of Landry paralysis with a proven etiological role of herpetic infection is reported. Acute clinical syndrome developed as a manifestation of exacerbation of chronic inflammation in the central nervous system. Advancement of the process and generalisation of herpetic infection was connected with immunodeficiency in this patient.


Subject(s)
Herpesviridae Infections/diagnosis , Paralysis/diagnosis , Polyneuropathies/diagnosis , Adult , Humans , Male , Paralysis/virology , Polyneuropathies/virology , Syndrome
4.
Genet Couns ; 3(3): 127-32, 1992.
Article in English | MEDLINE | ID: mdl-1388930

ABSTRACT

We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.


Subject(s)
Abnormalities, Multiple/genetics , Eye Abnormalities/genetics , Holoprosencephaly/genetics , Ultrasonography, Prenatal , Abnormalities, Multiple/diagnostic imaging , Abortion, Eugenic , Adult , Brain/pathology , Eye Abnormalities/diagnostic imaging , Female , Holoprosencephaly/diagnostic imaging , Humans , Micrognathism/diagnostic imaging , Micrognathism/genetics , Pregnancy
5.
Vopr Virusol ; 28(4): 39-44, 1983.
Article in Russian | MEDLINE | ID: mdl-6681258

ABSTRACT

Experimental amyotrophic leukospongiosis (ALSP) has first been reproduced in 2 squirrel monkeys 16 and 23 months after inoculation of the animals with a brain suspension from the patient who had died of this disease. From the brain cell cultures of the monkeys a hemadsorbing agent was isolated which induced cell proliferation and was inhibited by the antisera from patients with ALSP.


Subject(s)
Brain Diseases/microbiology , Muscular Atrophy/pathology , Paralysis/pathology , Slow Virus Diseases/pathology , Animals , Brain Diseases/pathology , Cells, Cultured , Central Nervous System/microbiology , Central Nervous System/pathology , Disease Models, Animal , Motor Neurons/pathology , Muscle Hypotonia/microbiology , Muscle Hypotonia/pathology , Muscular Atrophy/microbiology , Paralysis/microbiology , Saimiri , Slow Virus Diseases/microbiology , Time Factors
6.
Arkh Patol ; 44(10): 60-6, 1982.
Article in Russian | MEDLINE | ID: mdl-6101250

ABSTRACT

A histological study of a peculiar progressive disease of the central nervous system (CNS) named amyotrophic leukospongiosis was carried out in 5 observations. The regular histological signs included the loss of motor neurons in the spinal cord and encephalon, the status spongiosus of the white matter in the anterior and lateral columns of the spinal cord and different parts of the white matter in the encephalon. Unlike amyotrophic lateral sclerosis, amyotrophic leukospongiosis is characterized by intact myelin fibers of the anterior and lateral columns (including pyramidal tracts). The clinical, epidemiological, and histological data allow the disease to be classified into the group of slow virus infections.


Subject(s)
Brain/pathology , Motor Neurons/pathology , Neuromuscular Diseases/pathology , Slow Virus Diseases/pathology , Spinal Cord/pathology , Adult , Atrophy/pathology , Female , Humans , Male , Middle Aged
7.
Clin Genet ; 18(1): 6-12, 1980 Jul.
Article in English | MEDLINE | ID: mdl-7418255

ABSTRACT

Most cases of Wolf-Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf-Hirschhorn syndrome revels that association of typical external features and abnormalities ofthe brain (shortening of the H2 area of Ammon's horn, dystonic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.


Subject(s)
Chromosome Aberrations/pathology , Chromosomes, Human, 4-5 , Abnormalities, Multiple/pathology , Chromosome Disorders , Female , Humans , Infant, Newborn , Syndrome
8.
Hum Genet ; 46(3): 335-9, 1979 Feb 15.
Article in English | MEDLINE | ID: mdl-437777

ABSTRACT

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.


Subject(s)
Chromosomes, Human, 13-15 , Chromosomes, Human, 6-12 and X , Translocation, Genetic , Trisomy , Abnormalities, Multiple/genetics , Chromosome Banding , Chromosome Mapping , Factor VII/genetics , Female , Genes, Regulator , Hemorrhagic Disorders/genetics , Humans , Infant, Newborn
9.
Am J Med Genet ; 3(3): 261-7, 1979.
Article in English | MEDLINE | ID: mdl-225952

ABSTRACT

We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povysilova et al [3]. The above-mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym "the Neu-Laxova syndrome." Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu-Laxova syndrome is apparently transmitted as an autosomal recessive trait.


Subject(s)
Abnormalities, Multiple , Brain/abnormalities , Microcephaly/complications , Syndactyly/complications , Brain/pathology , Edema , Female , Humans , Infant, Newborn , Syndrome
10.
Am J Med Genet ; 3(3): 301-9, 1979.
Article in English | MEDLINE | ID: mdl-114053

ABSTRACT

We report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly -- namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated "atelencephaly." Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome." Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.


Subject(s)
Abnormalities, Multiple , Brain/abnormalities , Face/abnormalities , Eye Abnormalities , Forearm/abnormalities , Genitalia, Male/abnormalities , Humans , Infant, Newborn , Male , Syndrome
11.
Helv Paediatr Acta ; 33(1): 73-9, 1978 Apr.
Article in English | MEDLINE | ID: mdl-669973

ABSTRACT

Four perinatally dying infants with multiple congenital malformations, including pulmonary hypoplasia, multiple ankyloses, abnormalities of the face and camptodactyly are presented. The differences both for severity of pulmonary hypoplasia and for the type of associated malformations suggest that this complex of abnormalities is not a single syndrome but a complex of related entities. These entities and some other genetical syndromes may form a "community of malformations" involving facial, skeletal (arthrogryposis, camptodactyly) and placental abnormalities.


Subject(s)
Abnormalities, Multiple , Ankylosis , Fingers/abnormalities , Lung/abnormalities , Face/abnormalities , Female , Humans , Infant, Newborn , Male
12.
Hum Genet ; 41(2): 235-41, 1978 Mar 17.
Article in English | MEDLINE | ID: mdl-640658

ABSTRACT

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.


Subject(s)
Chromosomes, Human, 6-12 and X , Trisomy , Adult , Cleft Lip/etiology , Cleft Palate/etiology , Clubfoot/etiology , Female , Humans , Infant, Newborn , Karyotyping , Male , Pedigree , Polycystic Kidney Diseases/etiology , Skull/abnormalities
14.
J Med Genet ; 13(4): 314-8, 1976 Aug.
Article in English | MEDLINE | ID: mdl-957381

ABSTRACT

The detailed morphological description of 4 cases with cebocephaly, 3 of which were karotyped (one with D trisomy and 2 with normal karyotypes), are presented. Analysis of all cytogenetically studied cases with this malformation reveals that cebocephaly with a normal karyotype may result from more than one mutant gene, and so it may be accompanied by different extracranial abnormalities. On the other hand an absence of visceral malformations does not exclude chromosomal aberrations; thus 18p- syndrome, where cebocephaly is frequent, may have no visceral abnormalities.


Subject(s)
Abnormalities, Multiple , Brain/abnormalities , Nose Deformities, Acquired/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes , Chromosomes, Human, 16-18 , Female , Humans , Infant, Newborn , Karyotyping , Male , Syndrome
15.
Clin Genet ; 7(5): 382-7, 1975.
Article in English | MEDLINE | ID: mdl-1149307

ABSTRACT

Two cases of the Smith-Lemli-Opitz syndrome are described, together with the autopsy findings. In both cases, the typical appearance and visceral malformations were present. Hypoplasia of the frontal lobes and corpus callosum, and aplasia of the splenium constitute abnormalities of the brain which may be useful in the diagnosis of this disorder at autopsy. The autosomal recessive mode of inheritance of this syndrome was confirmed.


Subject(s)
Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Autopsy , Chromosome Aberrations/genetics , Chromosome Disorders , Dermatoglyphics , Female , Growth Disorders/genetics , Growth Disorders/pathology , Humans , Infant , Infant, Newborn , Karyotyping , Male , Microcephaly/genetics , Microcephaly/pathology , Pedigree , Syndrome
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