Combined malonic and methylmalonic aciduria (CMAMMA) is a rare inherited metabolic disorder caused by mutations in the ACSF3 gene. The disease is characterized by neurological impairment, developmental delay, epileptic seizures, and movement disorders. We present a clinical case of a 1.5-year-old child born from a consanguineous marriage with severe epileptic encephalopathy and significant neurological deficits. This case highlights the importance of comprehensive clinical, biochemical, and molecular genetic evaluation in the diagnosis of rare inherited metabolic disorders.
Усманова Гулчехра Эркиновна, Рахимбаева Гулнора Саттаровна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Biomarkers of the acute phase of hemorrhagic stroke are objective biochemical parameters that reflect the intensity of pathophysiological processes in the early days of the disease and have the potential to predict…
Усмонова Нафиса Нуруллаевна, Рахматова Дилбар Исматиллоевна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
62 patients with CKD were examined, 22 of them with CKD stage I-II, 20 with CKD stage III, 20 with CKD stage IV. A questionnaire was conducted to identify limitations in daily activity, neuropsychological testing was…
Абдуллаев Зафаржон Хикматиллаевич, Мадждова Ёкутхон Набиевна, Мирзаахмадий Махлиё Мухаммад кизи · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Stroke is one of the leading causes of death and disability worldwide, with the greatest burden falling on low- and middle-income countries. Tashkent lacks a unified stroke registry, and incidence statistics from…
Раҳимбаева Гулнора Саттаровна, Караманова Шаҳноза Зафар қизи · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Parkinson’s disease (PD) is a chronic progressive neurodegenerative disorder characterized by the degeneration of dopaminergic neurons in the substantia nigra and the development of both motor manifestations…
Назарова Гульнора Таджидиновна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
To evaluate the specific characteristics of electromyographic parameters in patients with progressive muscular dystrophies (PMD) and determine their diagnostic and prognostic significance. Materials and Methods: Between…
Разикова Фируза Бахритдиновна, Рахматова Дилбар Исматиллоевна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
The cognitive functions of the brain allow you to know the world, analyze information and make inferences. Cognitive impairment is one of the most disabling complications of ischemic stroke, significantly worsening the…
Мирджураев Э.М, Адамбаев З.И, Маматханова Ч.Б · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Cervical myelopathy (CM) is a complex clinical syndrome caused by compression or impaired blood supply to the spinal cord in the cervical region due to pathology of the cervical spine. Early diagnosis and adequate…
Дониеров Бахриддин Бахром угли, Абдуллаева Наргиза Нурмаматовна, Мавлянова Зилола Фархадовна, Ашуров Рустамжон Фуркатович, Шамсиев Эльдор Аслиддинович · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
The article presents the results of a study on psychoemotional disorders and the characteristics of micronutrient status in athletes with different levels of internet addiction. The study involved 96 athletes aged…
Шодиев Улугбек Дониёр угли, Рахимбаева Гульнора Саттаровна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Objective: To evaluate the effectiveness of a personalized prevention strategy for recurrent hemorrhagic stroke in primary healthcare settings. Materials and methods: A prospective controlled study was conducted…
Мирджураев Эльбек Миршавкатович, Адамбаев Зуфар Ибрагимович, Маматханова Чарос Баходировна · Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2026-06-22
Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord compression and its subsequent degeneration in adults. Despite the fact that surgical decompression is the main method of treatment for…