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Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
View Article and Find Full Text PDFRetrospective analysis of 80 patients diagnosed with reversible cerebral vasoconstriction syndrome in the Helsinki Metropolitan Area.
Eur J Neurol
February 2025
Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Background And Purpose: Up to 80% of patients diagnosed with reversible cerebral vasoconstriction syndrome (RCVS) experience complications such as ischaemic stroke, intracerebral or subarachnoid haemorrhage or posterior reversible encephalopathy syndrome. The aim was to evaluate the incidence of complications in patients diagnosed with RCVS in our clinic.
Patients And Methods: All adult patients (age >16 years) diagnosed with RCVS at the Helsinki University Central Hospital during the period between 1 January 2016 and 31 December 2022 were retrospectively identified.
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFCharacteristics of TSPO expression in marmoset EAE.
J Neuroinflammation
January 2025
Viral Immunology Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Building 10, Room 5C103, 10 Center Drive, Bethesda, MD, 20892-1400, USA.
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS) and is a leading non-traumatic cause of disability in young adults. The 18 kDa Translocator Protein (TSPO) is a mitochondrial protein and positron emission tomography (PET)-imaging target that is highly expressed in MS brain lesions. It is used as an inflammatory biomarker and has been proposed as a therapeutic target.
View Article and Find Full Text PDFMorphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.
CNS Neurosci Ther
January 2025
Children's Medical Center, Department of Pediatric Neurology, Peking University First Hospital, Beijing, China.
Aims: Alexander disease (AxD) is a leukodystrophy caused by mutations in the astrocytic filament gene GFAP. There are currently no effective treatments for AxD. Previous studies have rarely established AxD models with the patient's original GFAP mutations.
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