The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/mds.10662 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mutations in leucine-rich repeat kinase 2 ( ) are the most common cause of familial and sporadic Parkinson's disease (PD). While the clinical features of -PD patients resemble those of typical PD, there are significant differences in the pathological findings. The pathological hallmark of definite PD is the presence of α-synuclein (αSYN)-positive Lewy-related pathology; however, approximately half of -PD cases do not have Lewy-related pathology.
View Article and Find Full Text PDFAssociations Among EEG Aperiodic Slope, Infant Temperament, and Maternal Anxiety/Depression Symptoms in Infancy.
Psychophysiology
January 2025
Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts, USA.
The aperiodic "slope" of the EEG power spectrum (i.e., aperiodic exponent, commonly represented as a slope in log-log space) is hypothesized to index the cortical excitatory-inhibitory balance.
View Article and Find Full Text PDFTreatment patterns for chronic obstructive pulmonary disease under the tiered medical system.
Sci Rep
January 2025
Department of Respiratory and Critical Care Medicine, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
China has implemented the "tiered medical services" policy since 2015, while there is a paucity of data evaluating the the current status of chronic obstructive pulmonary disease (COPD) management under the system. Characteristics and treatments from 11,905 COPD patients in 88 hospitals across different tiers in China were included and analyzed. We assessed the statistical significance of differences by one way analysis of variance (ANOVA) for continuous variables and with the chi-squared test for categorical variables.
View Article and Find Full Text PDFPrecocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFFXR1 Deletion from Cortical Parvalbumin Interneurons Modifies their Excitatory Synaptic Responses.
eNeuro
January 2025
Department of Neuroscience, University of Wisconsin-Madison, Madison, WI, 53705
Fragile X autosomal homolog 1 (FXR1), a member of the fragile X messenger riboprotein 1 family, has been linked to psychiatric disorders including autism and schizophrenia. Parvalbumin (PV) interneurons play critical roles in cortical processing, and have been implicated in FXR1-linked mental illnesses. Targeted deletion of FXR1 from PV interneurons in mice has been shown to alter cortical excitability and elicit schizophrenia-like behavior.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!