[Study of taurine levels in the blood and urine of patients with hereditary spinocerebellar degeneration]. / Issledovanie soderzhaniia tayrina v krovi i moche u bol'nykh s nasledstvennymi spinotserebelliarnymi degeneratsiiami.

Measurements were made of the content of taurine in the blood and urine of 25 patients with Friedreich's ataxia and 13 patients suffering from Pierre Marie syndrome as well as of their 55 phenotypically healthy relatives. A high excretion of taurine with urine was found as was a direct relationship between the content of that amino acid and the intensity of ataxic disorders. The content of taurine in the urine of the patients' phenotypically healthy relatives appeared to be between the parameters established in the patients and healthy persons. It is suggested that the high excretion of taurine may be of the genetic character and that such a deficiency may play the leading part in the origin of motor disorders in patients with hereditary ataxias.

[Proximal spinal muscular atrophies]. / Proksimal'nye spinal'nye myshechnye atrofii.

The author observed 24 patients with proximal spinal muscular atrophies (PSMA) 15 of whom were suffering from Kugelberg-Welander's disease, and 9 from the intermediate form. In addition to the conventional neurological examinations carried out in all the patients, 11 patients were also examined electroneuromyographically. A genetic analysis of affected families was performed. The analysis showed that the disease forms being studied were inherited according to the autosomo-recessive type: this was in agreement with literary data. The age of the disease onset, the clinical manifestations of the disease, particularly, the character of the atrophies and their prevalent localization; the course and the degree of the disease progress, and the prognosis were also analyzed. The author discusses the character of the electroneuromyograms that showed a typical picture of motoneuron affection, while the conductivity of motor nerves remained normal, though showed signs of an increase of motor unit parameters with a decrease of the number of voluntarily-activated units, i.e. a diminution of mobilization. The degree of the EMG amplitude lowering during voluntary muscular contractions correlated with the disease gravity. The speed of the impulse conduction was normal. The data presented may be of a certain significance for medico-genetic consultations.

[Catecholamine metabolism in Huntington's chorea (in patients and their phenotypically healthy relatives)]. / Obmen kateckholaminov pri khoree Gentingtona (u bol'nykh i ikh fenotipicheski zdorovykh rodstvennikov).

Excretion of free catecholamines and dopamine was examined in 18 patients with Huntington's chorea and in their phenotypically healthy relatives (16 persons). A relationship between the level of the dopamine excretion and the degree of the hyperkinetic disturbances has been revealed. Part of the healthy relatives showed a substantial increase in dopamine excretion. It is suggested that dopamine metabolism disturbances play the leading role in the disease development, and that it would be wise to use therapeutic agents acting upon the striatum small cells and dopaminergic receptors.

[Electroencephalographic changes in Firedreich's and Pierre-Marie disease]. / Ob élektroéntsefalograficheskikh izmeneniiakh pri bolezniakh Fridreikha i P'era Mari

The authors analyze in EEG changes seen in 14 patients with Friedreich's ataxia and in 7 patients with Pierre Marie ataxia. In all cases there was a changed bioelectrical brain activity, more expressed in Friedreich's disease. These changes were in the forma of alpha- and beta-activity, in irregular sharp waves or groups of slow fluctuations in the theta- and delta-waves. These changes are not strictly specific for these disorders. In Pierre Marie's disease there was a certain correlation between the duration of the disease and expressiveness of EEG changes. In both disorders the expressiveness of the changes were significantly influenced by the degree of brain stem lesions.