Interdisciplinary aspects of diagnosis of hereditary neurodegenative diseases
DOI: 10.32364/2587-6821-2025-9-11-2
I.F. Fedoseeva, A.V. Goncharenko, T.V. Poponnikova, V.A. Goncharenko
Kemerovo State Medical University, Kemerovo, Russian Federation
Hereditary degenerative diseases can clinically manifest as neuro-ophthalmological syndromes at different stages. Timely diagnosis of this pathology can influence the prognosis in connection with capabilities and prospects of pathogenetic therapy of certain forms of hereditary diseases. The diagnosis is complicated not only by wide variability of phenotypic manifestations and diversity of identified genetic defects, but also by changes in the clinical picture as abnormal metabolism products accumulate in various body tissues, as well as by diversity and non-specific laboratory finings. Ophthalmoscopic changes, ptosis, optic nerve atrophy, and oculomotor disorders may precede paresis, extrapyramidal, cerebellar and cognitive impairments, paroxysmal manifestations, and other neurological syndromes. They should be a reason to consider a hereditary pathology in a differential diagnostic aspect using genetic research methods. The review highlights examples of isolated and combined manifestations of hereditary degenative diseases associated with nervous system and eye damage, which reflect complicated diagnosis of the pathology and importance of awareness among specialists of various fields and interdisciplinary continuity at each stage of management of a patient with suspected orphan disease.
Keywords: hereditary neurodegenerative diseases, oculomotor disorders, neuro-ophthalmological syndromes, storage diseases.
For citation: Fedoseeva I.F., Goncharenko A.V., Poponnikova T.V., Goncharenko V.A. Interdisciplinary aspects of diagnosis of hereditary neurodegenative diseases. Russian Medical Inquiry. 2025;9(11):782–787 (in Russ.). DOI: 10.32364/2587-6821-2025-9-11-2
ABOUT THE AUTHORS:
Irina F. Fedoseeva — C. Sc. (Med.), Assistant Professor at the Department of Neurology, Neurosurgery, Medical Genetics and Medical Rehabilitation, Kemerovo State Medical University; 22A, Voroshilov str., Kemerovo, 650056, Russian Federation; ORCID iD 0000-0003-3692-5673
Alexey V. Goncharenko — C. Sc. (Med.), Assistant Professor at the Department of Ophthalmology, Kemerovo State Medical University; 22A, Voroshilov str., Kemerovo, 650056, Russian Federation; ORCID iD 0009-0008-8805-6784
Tatiana V. Poponnikova — Dr. Sc. (Med.), Professor at the Department of Neurology, Neurosurgery, Medical Genetics and Medical Rehabilitation, Kemerovo State Medical University; 22A, Voroshilov str., Kemerovo, 650056, Russian Federation; ORCID iD 0000-0003-2894-3062
Vladimir A. Goncharenko — Senior Lecturer at the Department of Ophthalmology, Kemerovo State Medical University; 22A, Voroshilov str., Kemerovo, 650056, Russian Federation; ORCID iD 0009-0008-8805-6784
Contact information: Irina F. Fedoseeva, e-mail: irenf1@yandex.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 24.06.2024.
Revised 17.07.2024.
Accepted 09.08.2024.
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17. Khodor A., Ruiz-Lozano R.E., Lanzo E. et al. Clinical Presentation and Neuro-Ophthalmological Features in Spinocerebellar Ataxia Type 3: A Case Report and Literature Review. J Neuroophthalmol. 2025;45(2):e132–e133. DOI: 10.1097/WNO.0000000000002172
18. Chorfi S., Place E.M., Mallery R.M., Huckfeldt R.M. Retinal Manifestations in Spinocerebellar Ataxia Type 3. J Neuroophthalmol. 2024;44(1):e3–e5. DOI: 10.1097/WNO.0000000000001759
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21. Penning L.C., Berenguer M., Czlonkowska A. et al. A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment. Biomedicines. 2023;11(2):420. DOI: 10.3390/biomedicines11020420
22. Araújo Salomão R.P., Rezende Filho F.M., Borges V. et al. Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation. Parkinsonism Relat Disord. 2024;123:106103. DOI: 10.1016/j.parkreldis.2024.106103
23. Lin T.Y., Liang I.C., Chang Y.H. Kayser-Fleischer ring and sunflower cataract in a patient with Wilson's disease. QJM. 2022;114(11):822–823. DOI: 10.1093/qjmed/hcab226
24. Chevalier K., Mauget-Faÿsse M., Vasseur V. et al. Eye Involvement in Wilson's Disease: A Review of the Literature. J Clin Med. 2022;11(9):2528. DOI: 10.3390/jcm11092528
25. Martínez-Morillo E., Bauça J.M. Biochemical diagnosis of Wilson's disease: an update. Adv Lab Med. 2022;3(2):103–125. DOI: 10.1515/almed-2022-0020
26. Si L., Wang Z., Li X.Y. et al. Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders. Neurogenetics. 2023;24(4):231–241. DOI: 10.1007/s10048-023-00725-9
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