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The underpinnings of cerebellar ataxias
The human cerebellum contains more than 60% of all neurons of the brain. Anatomically, the cerebellum is divided into 10 lobules (I-X). The cerebellar cortex is arranged into three layers: the molecular layer (external), the Purkinje cell layer and the granular layer (internal). Purkinje neurons and interneurons are inhibitory, except for granule cells.
openaire +3 more sources
ObjectiveTo determine the effectiveness of transcranial magnetic stimulation in improving cerebellar ataxia.Data sourcesPubMed, EMBASE, the Cochrane Library, Springer, Science Direct, the China National Knowledge Infrastructure (CNKI) and the China ...
Ying Wang +5 more
doaj +1 more source
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia [PDF]
Progressive supranuclear palsy (PSP) is characterized by supranuclear gaze palsy, dystonic rigidity of the neck and upper trunk, frequent falls and mild cognitive impairment.
Shoichiro Ando +2 more
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Childhood Cerebellar Ataxia [PDF]
Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child’s age at onset, the course of illness, and subtle differences in phenotype ...
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IntroductionVery rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin
Sarah Jesse +29 more
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COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy ...
Justyna Paprocka +3 more
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BackgroundThe mechanisms of cerebellar degeneration attributed to prolonged and excessive alcohol intake remain unclear. Additional or even alternative causes of cerebellar degeneration are often overlooked in suspected cases of alcohol-related ataxia ...
Stuart Currie +6 more
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Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation.
Wladimir Bocca Vieira de Rezende Pinto +4 more
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A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc ...
Lorenzo Nanetti +13 more
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The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source

