The case of a girl with recurring chorea and a Takayasu's arteritis diagnosis is reported. This clinical manifestation has been reported in only one patient with this vasculitis in the pediatric group.
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A collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.
Sci Rep
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rare diseases may affect the quality of life of patients and be life-threatening. Therapeutic opportunities are often limited, in part because of the lack of understanding of the molecular mechanisms underlying these diseases. This can be ascribed to the low prevalence of rare diseases and therefore the lower sample sizes available for research.
View Article and Find Full Text PDFAutophagy receptor-inspired chimeras: a novel approach to facilitate the removal of protein aggregates and organelle by autophagy degradation.
J Zhejiang Univ Sci B
September 2024
Institute of Pharmaceutical Pharmacology, School of Pharmacy, University of South China, Hengyang 421001, China.
Neurodegenerative diseases (NDDs), mainly including Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), and Alzheimer's disease (AD), are sporadic and rare genetic disorders of the central nervous system. A key feature of these conditions is the slow accumulation of misfolded protein deposits in brain neurons, the excessive aggregation of which leads to neurotoxicity and further disorders of the nervous system.
View Article and Find Full Text PDFDiabetic Striatopathy: An Extremely Rare Form of Diabetes Mellitus End-Organ Lesions.
Cureus
November 2024
Internal Medicine, Hospital Santo André, Unidade Local de Saúde da Região de Leiria, Leiria, PRT.
Diabetes mellitus is one of the most frequent endocrinopathies in the medical routine, appearing across different specialties. Although neurological involvement in the form of peripheral neuropathy is the most recurrent form acknowledged by physicians, the spectrum of neurological involvement can be more diverse. Here, we present a case of diabetic striatopathy, a rare neurological manifestation of diabetes mellitus with poor metabolic control, in a patient whose epidemiological group was not classically.
View Article and Find Full Text PDFClinical and neuroimaging characteristics of diabetic striatopathy: a case series report.
Front Endocrinol (Lausanne)
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Department of Neurology, First Medical Center of Chinese People's Liberation Army (PLA) General Hospital, Beijing, China.
Background: Diabetic striatopathy (DS) is a rare disorder characterized by clinical manifestations of hemichorea, non-ketotic hyperglycemia, and high signal on T1-weighted MRI or high density on CT scan in basal ganglia, typically associated with poor glycemic control.
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Department of Rehabilitation Medicine, Shihwa Medical Center, Gyeonggi-do, Republic of Korea.
Article Synopsis
- Post-stroke hemichorea-hemiballismus (HCHB) usually causes abnormal movements on the opposite side of a brain lesion, but this case showed it occurring on the same side instead.
- A patient who had left-sided weakness from a right basal ganglia bleed developed right HCHB, and low-frequency repetitive transcranial magnetic stimulation (rTMS) was used to help with motor recovery.
- After four weeks, the treatment not only improved the HCHB symptoms but also increased blood flow in the affected brain area, suggesting rTMS could be a promising therapy for HCHB post-stroke.
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