[Clinical phenotypes of optic nerve damage in patients with neuromyelitis optica spectrum disorder]. / Klinicheskie fenotipy porazheniya zritel'nogo nerva u patsientov s zabolevaniyami spektra opticheskogo neiromielita.

Neuromyelitis optica spectrum disorders (NMOSD) comprise a group of autoimmune inflammatory demyelinating diseases of the central nervous system that manifest as optic neuritis and transverse myelitis. Its manifestation in the form of optic neuritis makes early diagnosis difficult because neuroimaging of the spinal cord is not a part of the routine examination algorithm for such patients. This article presents the results of a comprehensive ophthalmological examination of 4 patients (8 eyes) diagnosed with NMSOD. Optic neuritis was the disease debut in 3 patients and had 1-2 relapses, in all cases partial optic atrophy with moderate to severe loss of visual function occurred. The clinical picture was characterized by a pronounced heterogeneity in terms of both ophthalmological symptoms, and accession of neurological disorders. Treatment of NMOSD requires differential diagnosis with multiple sclerosis, which depends on the awareness of specialists and the inclusion of antibody titers to aquaporin-4 and myelin oligodendrocyte glycoprotein into the examination algorithm of patients with optical neuritis.

['Point of no return' in diabetic neuropathies: a dangerous delusion]. / 'Tochka nevozvrata' pri diabeticheskikh neiropatiiakh: opasnoe zabluzhdenie.

Polyneuropathy in patients with diabetes mellitus is manifested by a lesion of peripheral sensory, motor and autonomic nervous system. Different severity of damage of sensory, motor and autonomic fibers in typical and atypical forms of diabetic polyneuropathy, requires a differentiated approach to therapy, but not the rejection of its implementation. In an interdisciplinary consensus, consultations are held with physicians from different regions of the Russian Federation, and modern methods of diagnosing and assessing the severity of diabetic polyneuropathies, which determine the algorithm for treating patients, are discussed.

[Transthyretin familial amyloid polyneuropathy]. / Transtiretinovaia semeinaia amiloidnaia polineiropatiia.

Transthyretin family amyloid polyneuropathy (TTR-FAP) is a progressive, ultimately fatal disease. It manifests itself primarily with sensory, motor and autonomic polyneuropathy and/or cardiomyopathy and is caused by extracellular deposition of insoluble amyloid fibrils in the endoneurium. The cause of TTR-FAP is the mutation in the gene encoding transthyretin, more than 100 types of mutations are known. Given the phenotypic diversity of TTR-FAP, it is difficult for clinicians to make this diagnosis. An erroneous diagnosis is a frequent occurrence, risking the onset of an organ pathology. The paper addresses the issues of the pathogenesis, diagnosis and treatment of TTR-FAP.

[Genetic aspects of migraine].

Migraine is a common disease characterized by severe headache with nausea, vomiting and hypersensitivity to sounds, light, smell. Neurological symptoms during aura period develop in 25% of patients. Genes responsible for migraine development have been identified. The mutations in familial hemiplegic migraine are better investigated. The serotonin system plays a key role in the migraine pathogenesis. It was described the syndrome of migraine-like headache occurring due impaired serotonin metabolism in patients with celiac disease. Celiac disease is a chronic polysyndrome disease, enteropathy. Arteriopathies associated with migraine are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (syndrome CADASIL), retinal vasculopathy with cerebral leukodystrophy (RVCL), hereditary systemic angiopathy (HSA), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).

[Gluten migraine].

OBJECTIVE: to study the prevalence of migraine among patients with celiac disease (CD) and clinical features of «gluten migraine¼ syndrome and to assess the efficacy of gluten diet in its treatment. MATERIAL AND METHODS: Authors examined 200 CD patients (main group) and 100 patients with reflux esophagitis and without CD (control group). All patients fulfilled the headache diary during three months before the diagnosis of migraine was made and six months during gluten diet. RESULTS AND CONCLUSION: CD group had migraine syndrome four times more often than the control group (48.5%; p<0.001). In CD group migraine attacks were 2.5 times more frequent than in the control group (р=0.004), but the duration of the attacks was less long, 8 hours in average. The migraine attacks measured by the Visual Analog Scale were less intensive, 55% in average, and had a later onset. The attacks were more frequent in CD patients who were older than 50 years old (р<0.05). The attacks disappeared in 25% of patients with migraine syndrome who were on the gluten diet and the reduction in the intensity and/or frequency of attacks was observed in 38% of patients. We revealed the clear association between migraine syndrome and CD and the high efficacy of gluten diet in the treatment of migraine symptoms.

[Polyneuropathy of thin fibers].

Polyneuropathy of thin fibers (PTF) is a disorder with selective damage of Aδ- and C-fibers. Having a skin biopsy the SFN became visible. In the article there are data on the pathogenesis, clinics and diagnostics of the PTF. The skin biopsy, the quantitative sensory testing, the corneal confocal microscopy, nociceptive evoked potentials, the microneurography and the autonomic testing are described in detail. New diagnostic criteria ofthe PTF are given. Main directions in the management of the PTF are the treatment of systemic diseases and the neuropathic pain relief.

[Immunohistochemical examination of skin biopsy specimens with calculation of C fibers in the diagnosis of polyneuropathy].

The paper discusses the anatomy of innervation of the skin, the epidermis and dermis in particular, which are related to pain, the markers of skin nerves and cells. It gives data on the diagnosis of fine unmyelinated fibers, by immunohistochemically examining skin biopsy specimens. The paper also describes the morphometry of skin nerves: intraepidermal nerve fibers, dermal nerve fibers, and autonomic nerve fibers. It discusses whether a skin biopsy specimen may be used to diagnose polyneuropathies of different etiology: diabetic, immune, HIV-related, and hereditary ones.

[Ophthalmic manifestations of Huntington's disease].

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene. The whole nervous system, including visual analyzer, is involved in the pathogenesis of the disease. Various ocular sings can be found in both preclinical and clinical stages of HD. Specific retinal damage, namely, abnormal proteins formation, photoreceptor degeneration and retinal remodeling, has been studied in animal models. Functional changes in occipital lobe activity and its atrophy as well as degeneration of visual pathways can already be present in the early stages of the disease. Oculomotor symptoms of HD include disturbed visual fixation, slower tracking eye movements and saccades, and suppressed vestibulo-ocular reflex. Visual perceptual disorders, such as visuospatial difficulties, problems of stimulus identification and motion perception, along with decreased contrast sensitivity, have also been described. The possibility of using certain ophthalmic parameters as biomarkers of HD is being discussed.

[Efficacy of the combination drug vasobral in chronic vascular encephalopathy].

OBJECTIVE: Despite the high prevalence of chronic vascular encephalopathy, its diagnosis and treatment remain understudied. This observational multicenter trial assessed the efficacy and safety of vasobral in patients with cerebral ischemia. MATERIAL AND METHODS: The open observational study was carried out in 37 centers in 11 Russian cities and included 300 patients with confirmed diagnosis of chronic vascular encephalopathy, stages 1 and 2, without dementia. The patients received 1 tablet (4 mg α-dihydroergocryptine and 40 mg caffeine) 2 times a day during 3 months. RESULTS AND CONCLUSION: There was an improvement of cognitive and affective status as well as quality of life and a decrease of subjective signs of chronic vascular encephalopathy. Vasobral did not cause significant fluctuations of arterial pressure and was safe for patients with chronic vascular encephalopathy and arterial hypertension.