: The cerebellum has long been recognized as a fundamental structure in motor coordination. Structural cerebellar abnormalities and diseases involving the cerebellum are relatively common in children. The not always specific clinical presentation of ataxia, incoordination, and balance impairment can often be a challenge to attain a precise diagnosis. Continuous advances in genetic research and moreover the constant development in neuroimaging modalities, particularly in the field of magnetic resonance imaging, have promoted a better understanding of cerebellar diseases and led to several modifications in their classification in recent years. Thorough clinical and neuroimaging investigation is recommended for proper diagnosis. This review outlines an update of causes of cerebellar disorders that present clinically with ataxia in the pediatric population. These conditions were classified in 2 major groups, namely genetic malformations and acquired or disruptive disorders recognizable by neuroimaging and subsequently according to their features during the prenatal and postnatal periods.
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http://dx.doi.org/10.1097/RMR.0000000000000175 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Kemerovo State Medical University, Kemerovo, Russia.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.
View Article and Find Full Text PDFBMC Psychiatry
December 2024
Department of Psychiatry, First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.
Background: The clinical characteristics of major depressive disorder (MDD) in adolescents show notable gender-related differences, but the cause of these differences is still not understood. The current research concentrates on the changes in neurometabolism and neuroendocrine function, aiming to identify differences in endocrine function and brain metabolism between male and female adolescents with MDD.
Methods: A total of 121 teenagers diagnosed with MDD (43 males and 78 females) were enlisted as participants.
Cell Biochem Biophys
December 2024
Research Center of Neurology, Moscow, Russia.
Allopregnanolone (Allo) is a positive allosteric modulator of the GABA receptor, and amiloride (Ami) is a competitive antagonist of the GABA receptor. The purpose of this work was to study the combined effect of Allo and Ami on functional activity of GABA receptor. The GABA-induced chloride current (I) was measured in isolated Purkinje cells of rat cerebellum using the patch-clamp technique and a system of fast application.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
View Article and Find Full Text PDFNat Aging
December 2024
Latin American Brain Health Institute (BrainLat), Universidad Adolfo Ibañez, Santiago de Chile, Chile.
Structural inequality, the uneven distribution of resources and opportunities, influences health outcomes. However, the biological embedding of structural inequality in aging and dementia, especially among underrepresented populations, is unclear. We examined the association between structural inequality (country-level and state-level Gini indices) and brain volume and connectivity in 2,135 healthy controls, and individuals with Alzheimer's disease and frontotemporal lobe degeneration from Latin America and the United States.
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