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Possible causes of rare diseases in relatively small ethnic groups. Questions of mixed pathology and differential diagnosis

Abstract

The presented clinical case is probable case of the Creutzfeldt-Jakob Disease (CJD) from the region of distribution of the Vilyui encephalomyelitis (VEM) in Yakutia. The disease occurs in the form of rapidly progressive, fatal meningo-encephalitis, with positive identification of oligo bands of IgG in the cerebrospinal fluid and meningeal symptoms, but with CJD characteristic MRI neuroimage changes. Such cases, even being single and possibly not related to prion diseases, should cause the attention of the scientific and medical community and require thorough investigation and further study.

About the Authors

V. A. Vladimirtsev
Research Institute of health NEFU
Russian Federation

Vladimirtsev Vsevolod Afanasievitch, PhD, senior researcher, Head of Department of inflammatory and degenerative diseases of the brain

677010 Yakutsk, Sergelyakhskoe highway 4, bldg.2

phone: +7-914-231-25-99



T. K. Davidova
Research Institute of health NEFU
Russian Federation

Davydova Tatyana Kimovna, PhD, senior researcher, Research Institute of health NEFU



T. Y. Nikolaeva
MI NEFU
Russian Federation

Nikolaeva Tatiana Yakovlevna, MD, Head of the chair of nervous diseases and psychiatry

677005, Yakutsk, P. Alexeev St. 83A

phone: +7-914-266-11-14



L. T. Okoneshnikova
Center of Emergency Medical Care (RCECM)
Russian Federation

Okoneshnikova Lyudmila Timofeevna, Head of the neurological Department of the Republican hospital №2

677005, Yakutsk, P. Alexeev St. 83A

phone:+7-914-285-81-81



N. Yu. Gorokhova
Center of Emergency Medical Care (RCECM)
Russian Federation

Gorokhova Nadezhda Yurievna - a neurologist



N. V. Luginov
Republican hospital №2-Center of Emergency Medical Care (RCECM)
Russian Federation

Luginov Nikolai Vasilievitch, MD, Head of the Department of radiology

677005, Yakutsk, P. Alexeev St. 83A

phone: +7-914-223-48-57



L. A. Klarov
Republican hospital №2 (RCECM)
Russian Federation

Klarov Leonid Alexandrovich, Department Head of MRI of Department of radiology

677005, Yakutsk, P. Alexeev St. 83A

phone: +7-914-300-71-81



D. A. Popov
Department of radiology, Republican hospital №2 – RCECM
Russian Federation

Popov Dygyn Aleksandrovich - doctor of the MRI



M. M. Popov
Department of radiology, Republican hospital №2 – RCECM
Russian Federation

Popov Mikhail Mikhailovich, doctor-radiologist of the MRI

677005, Yakutsk, P. Alexeev St. 83A

phone: +7-914-223-48-57



V. L. Osakovsky
NEFU
Russian Federation

Osakovsky Vladimir Leonidovich, PhD, Senior researcher, Head of genetic laboratory research Institute of health

677010 Yakutsk, Sergelyakhskoe highway 4, bldg.2

phone: +7-924- 870-31-67



T. M. Sivtseva
NEFU
Russian Federation

Sivtseva Tatiyana Michailovna, PhD, Senior researcher of the Department of genetic laboratory research Institute of health

677010 Yakutsk, Sergelyakhskoe highway 4, bldg.2

phone: +7-914-223-74-32



F. A. Platonov
NEFU
Russian Federation

Platonov Fedor Alexeevich, MD, Director of the Institute of health

677010 Yakutsk, Sergelyakhskoe highway 4, bldg.2

phone: +7-964-419-58-35



References

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2. Vladimirtsev V.A. Criteria for the diagnosis of Vilyui encephalomyelitis / V.A. Vladimirtsev, M. Zeidler, K. Masters, L.G. Goldfarb // Thes. rep.II Intern.sci.-practical. conf. Problems of Vilyui encephalomyelitis, neurodegenerative and hereditary diseases of the nervous system.- Yakutsk, 2000. – P. 25-26.

3. Vladimirtsev V.A. Assessment of epidemic and infectious process of the Vilyui encephalomyelitis by the results of pathomorphological examination // Siberia-East. – Irkutsk, 2002. – №. 5. – P. 3-7.

4. Goldfarb L.G. Vilyui encephalomyelitis / L.G. Goldfarb, V.A. Vladimirtsev, N.M. Renwick, F.A. Platonov; M.K. Ammosov North-Eastern Federal University; Research Institute of health. – Novosibirsk: Publishing house SD RAS, 2014. – 256 p.

5. Gurieva P.I. Clinical observation of a family with autosomal dominant hereditary motor and sensory neuropathy Type Ia / P.I Gurieva, T.Y. Nikolaeva, N.P. Maksimova, A.L. Sukhomesova // Actual problems of clinical neurology: Materials of the interregional scientific-practical conference with international participation, dedicated to the 70th anniversary of the organization of neurological care in the Republic of Sakha (Yakutia) and the 90th anniversary of the foreign member of the Academy of Sciences of Sakha (Yakutia), winner of the Nobel prize C. D. Gajdusek. – P. 89-94.

6. Davydova T.K. Epidemiological survey of amyotrophic lateral sclerosis in the Republic of Sakha (Yakutia) for the period from 1989-2008 / T. K. Davydova //Ibid. – P. 94-101.

7. Renwick N. Amyotrophic lateral sclerosis: a defect in the gene expression at posttranscriptional level / N. Renwick, K. Max, K. Akat [et al.] // Ibid. – P. 101-102.

8. Osakovsky V.L. Immunopathology of Vilyui encephalomyelitis / V.L. Osakovsky, T.M. Sivtseva, V.G. Krivoshapkin // Neuroimmunology – 2012. – V. X, № 3-4. – P. 22-27.

9. Petrov P.A. The clinical picture of the acute stage of the Vilyui encephalitis(encephalomyelitis). – Yakutsk, 1964. – 122 p.

10. Shapoval A.N. Vilyui encephalomyelitis / A.N Shapoval. -Yakutsk, 1959. – 156 p.

11. Communicating Hydrocephalus Following Eosinophilic Meningitis Is Pathogenic for Chronic Viliuisk Encephalomyelitis in Northeastern Siberia / A. Storch, J. Kassubek, H. Tumani, V.A. Vladimirtsev [et al.] // PLOS ONE | www.plosone.org 1 February 2014 | Volume 9 | Issue 2 | e84670 / P. 1-9

12. Mutation Analysis of Spinocerebellar Ataxia Type I (SCA1) in a Large Iakut Kinship of Eastern Siberia / L.G. Goldfarb, A. Lunkes, O. Vasconcelos, F.A. Platonov [et al.] // Amer.J. of Human Genetics. –1994, 55 (Suppl):1287.

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Review

For citations:


Vladimirtsev V.A., Davidova T.K., Nikolaeva T.Y., Okoneshnikova L.T., Gorokhova N.Yu., Luginov N.V., Klarov L.A., Popov D.A., Popov M.M., Osakovsky V.L., Sivtseva T.M., Platonov F.A. Possible causes of rare diseases in relatively small ethnic groups. Questions of mixed pathology and differential diagnosis. Yakut Medical Journal. 2017;(1):67-71.

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)