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Evidence from animal models and neuropathological data has revealed cerebellar pathology in Huntington's disease (HD). The extent of cerebellar dysfunction in preclinical stages and in early manifest HD is unclear. In this study, using MRI we investigated cerebellar changes in preclinical (preHD) and early manifest HD individuals. High-resolution structural MRI data at 3 Tesla were obtained from two independent preHD samples (n = 20/25 participants), from two independent cohorts of healthy controls (n = 20/24 participants) and from patients with early manifest HD (n = 20 participants). Resting-state functional MRI data were acquired from 20 healthy controls and 20 HD patients. Cerebellar volume was investigated using cerebellum-optimized voxel-based analysis methods. Corticocerebellar connectivity at rest was investigated by means of seed-region correlations. In both preHD samples, between-group analyses revealed no change of cerebellar volume. In contrast, early manifest HD patients exhibited lower right cerebellar lobule VIIa volume (p < 0.05 cluster-corrected). Within the control group regions functionally coupled to right cerebellar lobule VII comprised bilateral cerebellar regions, right prefrontal and cingulate areas, whereas within manifest HD, functional coupling was found in paracentral, lingual and inferior frontal areas. Paracentral connectivity strength in patients was associated with disease burden and motor symptoms. These data suggest intact cerebellar volume in preHD. In contrast, early manifest HD patients exhibit atrophy of specific cerebellar subregions and abnormal corticocerebellar functional coupling. In early HD, the association between paracentral lobule function and clinical parameters suggests that corticocerebellar connectivity strength is related to the evolution of HD biology and the severity of HD motor signs.
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http://dx.doi.org/10.1007/s00415-015-7642-6 | DOI Listing |
NPJ Genom Med
December 2024
Experimental Center of Clinical Research, the First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Wilson's disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset forms. In this study, we performed a retrospective cohort study of 105 WD patients (99 index cases, 6 siblings) with an onset age ≥35 years. We compared 99 index late-onset patients with 1237 early-onset patients and analyzed the ATP7B variant penetrance referring to the Genome Aggregation Database (gnomAD).
View Article and Find Full Text PDFJ Int Med Res
December 2024
Department of Pathology, Chungbuk National University Hospital, Cheongju, Korea.
Adenoid cystic carcinoma (ACC) rarely occurs in the nasolacrimal duct (NLD), and when it does, it has nonspecific manifestations. To the best of our knowledge, one case of ACC in the NLD has been reported in the literature. Herein, we report a second case of ACC in the left NLD, concerning a man in his late 60s.
View Article and Find Full Text PDFVopr Kurortol Fizioter Lech Fiz Kult
December 2024
Polyclinic No. 3 of the Medical Sanitary Unit of the Ministry of Internal Affairs of the Russian Federation, Moscow, Russia.
Unlabelled: Hepatic encephalopathy is an early and severe complication of obstructive jaundice and is characterized by occurrence of non-focal and focal neurological manifestations. Different methods of therapy are applied for disorder correction. Low-intensity laser blood irradiation has a pronounced antioxidant and vasoactive effect.
View Article and Find Full Text PDFVopr Kurortol Fizioter Lech Fiz Kult
December 2024
S.I. Spasokukotsky Moscow Centre for Research and Practice in Medical Rehabilitation, Restorative and Sports Medicine, Moscow, Russia.
Unlabelled: Post-stroke cognitive impairments are widespread and significantly reduce the quality of life and rehabilitation prognosis of patients. Clinical observations show a serious variability of cognitive impairments in patients after acute cerebrovascular accident. Thus, the classification of above mentioned disorders, based on which it would be possible to determine the order of individualization of a cognitive rehabilitation program, is currently not available in literature.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
December 2024
Division of Paediatric Cardiology.
Background: Burkitt's lymphoma (BL) is the most common subtype of non-Hodgkin lymphoma in children, typically presenting with extranodal masses in areas such as the abdomen, face, and neck. Cardiac involvement in BL is extremely rare, especially in pediatric patients, and has significant implications for diagnosis, management, and prognosis.
Case Presentation: A 6-year-old male patient with Burkitt's lymphoma, presenting with an uncommon infiltration of the interatrial septum, is described.
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