Background: A 61-year-old male patient presented with cerebellar syndrome, which had progressively worsened for 10 days, followed by a tonic-clonic seizure.
Phenomenology Shown: Blood analysis showed severe hypomagnesemia and a brain MRI showed T2 hyperintensity in the cerebellar hemispheres (Figure 1). Therefore, the final diagnosis was cerebellar syndrome and epileptic seizures secondary to severe hypomagnesemia.
Educational Value: In cases of subacute onset of ataxia, the possibility of ataxia secondary to hypomagnesemia should be considered, as it can be diagnosed with a basic blood test and there are potentially life-threatening outcomes in the absence of treatment, with a reversible course following early supplementation.
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http://dx.doi.org/10.5334/tohm.749 | DOI Listing |
J Alzheimers Dis
January 2025
Centre for Brain Research, Indian Institute of Science, Bengaluru, Karnataka, India.
Background: Subjective cognitive decline (SCD) is the early predementia syndrome. that occurs even before the development of objective cognitive decline. SCD plus refers to an additional set of criteria that increases the likelihood of developing mild cognitive impairment and further progressing to Alzheimer's disease (AD).
View Article and Find Full Text PDFSci Rep
January 2025
Dept. of Emergency, Dept. of Infectious Diseases, Huashan Hospital, Fudan University, Shanghai, China.
Here we describe the derivation and validation of a prognostic nomogram for patients with Traumatic Intracranial Hemorrhage (tICH) after surgical evacuation. This is a retrospective study based on 245 patients admitted to the Department of Neurosurgery of Huashan Hospital affiliated to Fudan University, between August 2005, and August 2023. We divided the dataset into primary and validation data by the ratio of 7:3.
View Article and Find Full Text PDFNPJ Parkinsons Dis
January 2025
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, and Parkinson's disease (PD). However, the genotype-phenotype correlation and underlying mechanism are mostly unknown. We screened RFC1-repeat expansions in 1445 patients with parkinsonism.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Head and Neck Surgery, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.
Rationale: Cerebellar pontine angle lipomas with trigeminal neuralgia are rare. The treatment choice is influenced by whether the pain is caused by the lipoma or the compression of blood vessels. Herein, we aimed to report a case of the disease and provide a reference for its treatment.
View Article and Find Full Text PDFMov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
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