Validity and reliability of the Russian version of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R).

OBJECTIVE: The aim of this study is to elaborate a valid and reliable Russian version of the ALSFRS-R. METHODS: Russian adaptation of the ALSFRS-R was applied twice in 50 ALS patients followed by the test-retest analysis with a 7-day interval between applications and internal consistency analysis. RESULTS: Test-retest analysis showed very strong correlation for all of the ALSFRS-R variables. The intra-class correlation coefficient was 0.83. CONCLUSION: The elaborated Russian version of the ALSFRS-R has shown to be comparable with the original English version of the scale.

[Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].

Pompe disease (PD) is a rare autosomal recessive muscle lysosomal glycogenosis caused by a deficiency of acid-α-glucosidase. There are two main forms of the disease: aggressive infantile PD started within the first year of life with a severe enzyme deficiency and multiorgan involvement, and late onset PD (LOPD) with progressive signs and symptoms including predominant proximal, axial muscle weakness and respiratory insufficiency started at any time from 1 till 75 years and older. Usually due to physician's unawareness, most adults with PD are diagnosed with great delay. The typical features and early nonspecific signs in four patients, aged between 35 and 72 years, with confirmed LOPD are delineated and discussed in correspondence with the age of first signs, age development of muscle weakness, distribution and age of final diagnosis. The disorders for differential diagnosis and spectrum of conditions that expanded the possibility of PB are listed. The fluorometrically analyzed level of acid α-glucosidase from dried blood spots is considered to be the first choice diagnostic method for clinically suspected cases of LOPD.

[Headaches of tension and psychogenic headaches: assessment of the treatment with venlafaxine].

The modern classifications of headaches include primary headaches, e.g., migraines and headaches of tension (HAT), and secondary psychogenic headaches of tension (PHT). Forty-one patients with chronic variants of HAT and PHT were studied. In the first step, 12 patients with HAT and 11 patients with PHT were compared by clinical and psychometric scores on the following scales (the VAS, the McGill Pain Questionnaire, the MMPI). In the second step, 11 patients with HAT and 7 with PHT were treated with venlafaxine XR (velaxin) in dose 75 mg/d during 2 months. It has been shown that PHT differs from HAT by pain intensity and relationship with functional-neurologic symptoms as well as by personality deviations measured with MMPI and correlations between the pain intensity and MMPI peaks. The 2 month treatment with velaxin has improved significantly the state of patients. The significant decrease of pain severity, amount of analgesics and pain-associated symptoms as well as the normalization of functions of antinociceptive systems (the increase in nociceptive flexor reflex threshold) were noted in both groups. It has been concluded that venlafaxine is an effective drug in the treatment of both HAT and PHT.

[Familial transthyretin amyloidosis].

A case of familial transthyretin amyloidosis with TTR Cys 114 gene polymorphism is described (first in Russia and third in the world). The clinical picture of the proband was dominated by symptoms of autonomous polyneuropathy (orthostatic hypotension, erectile dysfunction, diarrhea, tachycardia, foot dyshydrosis) and of somatic nerve lesions (dumbness, impaired surface and deep sensitivity in the limbs). The patient presented with vitreous body opacity, disturbed eye movements, lateralized sensory symptoms, and difficulty of speech (baryphonia). Electromyographic quantitative autonomous testing and measurement of evoked sympathetic skin potentials confirmed affection of peripheral nerves. Heart ultrasound revealed restrictive amyloid cardiopathy. Histological analysis showed amyloid deposition in the intestines and sural nerve. The proband, his daughter, brother (monozygous twin), and brother's daughter had mutant TTR Cys 114 gene. The brother also had amyloid deposits in the absence of clinical signs of the disease. Analysis of familial medical history demonstrated autosomal dominant inheritance of this mutation in 4 generations. Its possible origin and clinical features of the disease are discussed.