In a review of magnetic resonance (MR) images from patients with spinocerebellar degeneration (SCD), we found 2 rare patients considered to be in late-stage cerebellitis who showed isolated cerebellar atrophy. The patients were negative for the spinocerebellar ataxia (SCA) genes and had no symptoms of hypothyroidism, history of malignant tumors, or history of alcohol and drug (phenytoin) abuse, which may cause cerebellar atrophy. MR images demonstrated generalized atrophy of the cerebellum, excluding the brainstem or cerebrum. In these cases, moreover, slightly high intensities were noted in the affected cerebellar cortices on fluid-attenuated inversion recovery (FLAIR) images. The distribution of widening of the folia and cortical high intensities on FLAIR images might be important clues with which to diagnose late-stage cerebellitis.
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http://dx.doi.org/10.2463/mrms.4.103 | DOI Listing |
Brain Imaging Behav
January 2025
School of Clinical Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou Normal University, Zhejiang, Hangzhou, China.
Irritable bowel syndrome (IBS) is a common brain-gut disorder often accompanied by depressive symptoms, with atrophy and hyperactivity of the anterior cingulate gyrus (ACC) being key drivers of both IBS and its psychiatric comorbidities. This study aimed to investigate the functional connectivity (FC) patterns of pregenual ACC (pgACC) and anterior midcingulate cortex (aMCC) in IBS patients with depressive symptoms (DEP-IBS). A whole-brain FC analysis was conducted using pgACC and aMCC as regions of interest in three groups: 28 DEP-IBS patients, 21 IBS patients without depressive symptoms (nDEP-IBS), and 36 matched healthy controls (HCs).
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Human Molecular Genetics and Biochemistry, Faculty of Health & Medical Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
Ataxia-telangiectasia (A-T) is a pleiotropic genome instability syndrome resulting from the loss of the homeostatic protein kinase ATM. The complex phenotype of A-T includes progressive cerebellar degeneration, immunodeficiency, gonadal atrophy, interstitial lung disease, cancer predisposition, endocrine abnormalities, chromosomal instability, radiosensitivity, and segmental premature aging. Cultured skin fibroblasts from A-T patients exhibit premature senescence, highlighting the association between genome instability, cellular senescence, and aging.
View Article and Find Full Text PDFHum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFAutosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide.
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