[The clinical and computed tomographic criteria of the diagnosis of multiple systemic cerebral atrophy with progressive autonomic insufficiency (the Shy-Drager syndrome)]. / Klinicheskie i komp'iuterno-tomograficheskie kriterii diagnostiki mnozhestvennoi sistemnoi atrofii mozga s progrssiruiushchei vegetativnoi nedostatochnost'iu (sindroma Shaia--Dreidzhera).

Based on clinical and CT examination of 3 patients with Shy-Drager syndrome and the reported data, differential diagnosis of the given diseases is under discussion. Shy-Drager syndrome is characterized by CT signs of progressive atrophy of the pons and cerebellum with no essential changes in the supratentorial brain structures. The authors support a proposal to use the term "multiple systemic atrophy" for designation of the disease entity that includes both Shy-Drager syndrome and sporadic patterns of olivopontocerebellar and strionigral degenerations in which the disease debuts by motor disorders of the extrapyramidal and cerebellar nature rather than by vegetative disturbances.

[Nosologic place of Pierre Marie's disease]. / O nozologicheskoi prinadlezhnosti bolezni P'era Mari.

Eight patients with Pierre Mary hereditary cerebellar ataxia were followed for several years in four generations of a family. Clinical pictures in those afflicted were stereotype: step-by-step increase of cerebellar and brainstem disorders, reduction of intellect, enforced tendon and periosteal reflexes with extrapyramidal and pelvic disorders absent even in the far developed cases. A strict autosome-dominant type of inheritance was demonstrated with no one generation escaped. Analysis of clinical signs suggests the nosologic separateness of the disease. The issues of its differentiation with several other forms of hereditary disorders are discussed.

[Impairment of the accuracy of tracking movements in lesions of the cerebellum and pyramidal system in man]. / Narusheniia tochnostnykh slediashchikh dvizhenii pri porazhenii mozzhechka i piramidnoi sistemy u cheloveka.

Kinematic and electromyographic characteristics of step-tracking movements performed with and without visual guidance have been studied in 3 groups of patients suffering from hereditary lesions of intermedial and lateral systems of the cerebellum and pyramidal tract. Lesions of the intermedial cerebellum not changing parameters of the first preprogrammed component altered deeply the maintenance phase that was performed as large oscillations around a required level. Lesions of the lateral cerebellum, on the contrary, were followed by inability to control accurately the amplitude of steps which were performed with a constant hypermetric error; the maintenance phase of movement was not disturbed in this group. In patients suffering from pyramidal lesions the initial rapid limb position adjustment was replaced by slow approximating tracking; the maintenance component of the movement was performed with fluctuations and constant drift towards the ground. It is concluded that whereas the lateral cerebellar system is involved in central motor program mechanisms, the intermedial cerebellum is essential for accurate postural maintenance.

[Characteristics of program-type movements in lesions of various cerebellar systems in man]. / Kharakteristiki dvizhenii programmnogo tipa pri porazhenii razlichnykh sistem mozzhechka u cheloveka.

Mechanisms of participation of two main cerebellar systems, i.e. lateral and intermedial ones, in control of preprogrammed voluntary movements have been studied in man. Related movements were analyzed in healthy subjects and in groups of patients suffering from different forms of cerebellar and pyramidal disorders. The task consisted of series of dorsal or plantar flexions of foot of increasing amplitudes with minimal amplitude of neighbouring movements. It was shown that both the lateral and intermedial cerebellar lesions were followed by deep alterations in program motor control mechanisms, however the intensity and specific features of alterations in two groups under study differed significantly. In patients suffering from pyramidal lesions the ability to perform programmed movements was lost completely.

[Computer tomography of the head in the diagnosis of various forms of hereditary familial ataxia]. / Komp'iuternaia tomografiia golovy v diagnostike nekotorykh form nasledstvenno-semeinykh ataksii.

Clinical examinations of 34 patients wit hereditary ataxies was carried out using computerized tomography. Potentialities of the computerized tomography for specifying the diagnosis in patients with Friedreich's ataxy (12 observations) and cerebellar degenerations (22 observations) were determined. The examinations of the 12 patients with Friedreich's hereditary ataxy performed by the computerized tomography method revealed signs of the cerebellar atrophy only in one patient. In 21 out of the 22 patients with various forms of the cerebellar ataxy, the tomographic examinations revealed symptoms of atrophy of the cerebellum and the brain stem both in the initial stages of the disease and in the stages characterized with gross coordination disturbances. The more pronounced the atactic disturbances, the greater the degree of the cerebellum atrophy, this increase being statistically valid (p less than 0.001), when assessed from the number of the hemispheric grooves). On the other hand, no relationship between the disease duration and the degree of the cerebellum atrophy symptoms was revealed by the computerized tomography method. In family cases of the cerebellar degeneration, the symptoms of the cerebellum atrophy were disclosed by the computerized tomography in all the family members examined, however, the degree of their manifestation was different. The data of the computerized tomography can be used for diagnostic differentiation between Friedreich's disease and cerebellar ataxies--this is of great importance for medico-genetic consulting.

[Otoneurologic symptomatology in hereditary cerebellar ataxia (Pierre Marie disease)]. / Otonevrologicheskaia simptomatika pri nasledstvennoi mozzhechkovoi ataksii (bolezni P'era Mari).

Results of otoneurological examinations of 16 patients (from 6 families) with hereditary cerebellar ataxia have been analyzed. It has been found that all the patients exhibit vestibular function disturbances that manifest clinically by the truncal and supranuclear syndrome. Of other otoneurological signs the most frequent is dysphagia (in 10 out of the 16 patients) which is due not only to the dyscoordination of the glottal muscles, but also to a paresis of the epiglottis, this paresis also being a sign of supranuclear pathology. The absence of the otoneurological disturbances in practically healthy relatives of the patients (12 persons) requires further accumulation of the experimental material, since it can be a proof, that there is no pathological carrying of the gene of hereditary cerebellar ataxia (Pierre Marie's disease) and this may be used subsequently for medico-genetic consultations.

[Cardiac changes in familial Friedreich's ataxia (clinico-morphologic study)]. / Izmeneniia serdtsa pri semeinoi ataksii Fridreikha (kliniko-morfologicheskoe issledovanie).

In familial Friedreich's ataxia besides lesions of the nervous system there is also cardiac pathology, which frequently may be the reason of a lethal outcome. As a result of a clinico-morphological study of the heart of a deceased patient, it was demonstrated that the character of morphological changes points to severe dystrophical changes of the myocardium of the "idiopathical" cardiomyopathy type.

[Bite anomalies in familial Friedreich's ataxia]. / Anomalii prikusa pri semeinoi ataksii Fridreikha.

Besides the spinal bone and foot deformations which are well known in Friedreich's disease, attention is drawn to deformations of the maxillodental system, the state of which was previously not studied. There was a pathology of bite in 16 of the 24 patients with Friedreich's familial ataxia. As a rule, these anomalies were combined with other bone deformations. In 2 families where several patients were examined there was a similar pathology of bite. A study of 24 patients and an examinations of a control group consisting of 151 individuals allows a conclusion that in Friedreich's disease pathology of bite is encountered almost as frequently as deformations of the spine and foot.

[Bite anomalies in familial Friedreich's ataxia]. / Anomalii prikusa pri semeinoi ataksii Fridreikha.

Besides well-known deformations of the spine and foot in Friedreich's disease, special attention is drawn to the deformation of the maxillodental system, the state of which was not specially studied before. The authors detected pathology of occlusion in 16 of 24 patients with familial Friedreich's ataxia. As a rule this form of anomaly is combined with other bone deformations. In 2 families, where several patients were studied, there was the same occlusional pathology. On the basis of a study of 24 patients and control consisting of 151 individuals, the conclusion is made, that in Friedreich's disease, almost as frequent as deformations of the spine and foot there are also pathological occlusions.

[Familial cases of disseminated sclerosis]. / O semeinykh sluchaiakh rasseiannogo skleroza.

The report contains a description of 3 families with disseminated sclerosis (2 siblings in each family). The detected changes in the immunological reactivity of these patients are correlated with the data of the previously studied 112 patients with disseminated sclerosis and speaks in favour of a neuroallergical reaction, the important role of which in the pathogenesis of disseminated sclerosis is at present generally acknowledged. Having in view the heredity of developing allergic reactions the authors suggest that there is a certain relation between the state of the immunocompetent systems and the predispositional factors in disseminated sclerosis. This serves as a basis for the assumption that disseminated sclerosis can be attributed to diseases with a hereditary predisposition where for the manifestation of the disease there should be an effect of exogenous (viral?) factors.

[State of the neuromuscular apparatus in Friedreich's familial ataxia (clinico-electromyographic analysis)]. / Sostoianie nervo-myshechnogo apparata pri semeinoi ataksii Fridreikha (kliniko-élektromiograficheskii analiz)

The authors conducted a clinico-EMG study of 25 patients with Friedreich's familial ataxia. For this purpose with the aid of skin electrodes the distal muscles were studied. A supplementary study was made in 18 patients; the rate of the circulation of excitation along the motor fibres of the peripheral nerves and the monosynaptic-reflex were determined. In most of the studied patients there was a lesion of the peripheral motoneuron. The degree of the lesion depended mainly on the duration of the disease. The authors are of the opinion that the found disorders play a certain role in the mechanism of motor-coordinative disturbances in this disease.

[Congenital cerebellar ataxia (a familial case)]. / Vrozhdennaia mozzhechkovaia ataksiia (semeinoe nabliudenie)

Inborn cerebellar ataxia is a very rare disease and current literature contains singular reports of familial observations. This report deals with a description of a family where the sibs both had inborn cerebellar ataxia. In this particular family the disease was inherited according to the recessive type. An examination of the parents displayed stem vestibular symptomatology, similar to the changes seen in the children. The author is of the opinion that the stem vestibular symptomatology seen in the parents may be an expression of heterozygotic carriers.