Children with developmental language disorder (DLD) struggle to learn their native language for no apparent reason. While research on the neurobiological underpinnings of the disorder has focused on the role of corticostriatal systems, little is known about the role of the cerebellum in DLD. Corticocerebellar circuits might be involved in the disorder as they contribute to complex sensorimotor skill learning, including the acquisition of spoken language. Here, we used diffusion-weighted imaging data from 77 typically developing and 54 children with DLD and performed probabilistic tractography to identify the cerebellum's white matter tracts: the inferior, middle, and superior cerebellar peduncles. Children with DLD showed lower fractional anisotropy (FA) in the inferior cerebellar peduncles (ICP), fiber tracts that carry motor and sensory input via the inferior olive to the cerebellum. Lower FA in DLD was driven by lower axial diffusivity. Probing this further with more sophisticated modeling of diffusion data, we found higher orientation dispersion but no difference in neurite density in the ICP of children with DLD. Reduced FA is therefore unlikely to be reflecting microstructural differences in myelination, rather the organization of axons in these pathways is disrupted. ICP microstructure was not associated with language or motor coordination performance in our sample. We also found no differences in the middle and superior peduncles, the main pathways connecting the cerebellum with the cortex. To conclude, it is not corticocerebellar but atypical olivocerebellar white matter connections that characterize DLD and suggest the involvement of the olivocerebellar system in speech and language acquisition and development.
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http://dx.doi.org/10.1162/nol_a_00142 | DOI Listing |
GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
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January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
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View Article and Find Full Text PDFJ Neuroophthalmol
January 2025
Departments of Ophthalmology and Visual Sciences (HMM, AH, EM), and Radiology (DMM), University of Toronto, Toronto, Canada; Department of Ophthalmology (LD), McMaster University, Hamilton, Canada; Departments of Ophthalmology and Visual Sciences, and Neurology (JDT), University of Michigan, Ann Arbor, Michigan; Department of Neurology (JDT), University of Michigan, Ann Arbor, Michigan; Division of Neurology, Department of Medicine (EM), University of Toronto, Toronto, Canada.
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View Article and Find Full Text PDFBMJ Case Rep
January 2025
Anaesthesiology and Critical Care, All India Institute of Medical Sciences, Patna, Bihar, India.
Cytoreductive surgery and intraoperative, intraperitoneal hyperthermic chemoperfusion (hyperthermic intraperitoneal intraoperative chemotherapy) are commonly used for the management of peritoneal surface metastases. We describe a case of acute embolic infarcts in bilateral cerebellar lobes, cerebral peduncles, thalamus and left parietal lobe cortex in a postmenopausal woman in her 50s diagnosed with bilateral ovarian mucinous adenocarcinoma with peritoneal metastasis under general anaesthesia.
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