Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

This scientific commentary refers to ‘Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice’ by Çalışkan (https://doi.org/10/109/brain/awaf203).

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12404712PMC
http://dx.doi.org/10.1093/brain/awaf265DOI Listing

Publication Analysis

Top Keywords

fragile x-associated
8
x-associated neuropsychiatric
8
neuropsychiatric disorders
8
bringing fragile
4
disorders phenotypic
4
phenotypic fold
4
fold premutation
4
premutation conditions
4
conditions scientific
4
scientific commentary
4

Similar Publications

Background: Repeat expansions in NOTCH2NLC and FMR1 share clinical features, including parkinsonism and ataxia, resembling atypical parkinsonian syndromes. We analyzed these expansions in atypical parkinsonism patients without corticomedullary junction hyperintensity on diffusion-weighted imaging, comparing them to asymptomatic elderly individuals.

Methods: We analyzed two cohorts: (1) 252 patients with atypical parkinsonism, including 165 with multiple system atrophy (MSA), 58 with progressive supranuclear palsy (PSP), and 29 with corticobasal syndrome, analyzed by repeat-primed polymerase chain reaction; and (2) 341 asymptomatic individuals over 60 from Taiwan Biobank, analyzed via whole-genome sequencing.

View Article and Find Full Text PDF

Oculomotor deficits are common in hereditary cerebellar ataxias (HCAs) and their quantitative assessment offers a sensitive and reliable manner to capture disease-severity and progression. As a group of experts of the Ataxia Global Initiative to support trial readiness, we previously established harmonized methodology for quantitative oculomotor assessments in HCAs. Here, we aimed to identify to most promising oculomotor/vestibular outcomes as endpoints for future trials.

View Article and Find Full Text PDF

FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI. FXTAS is almost never considered in the context of cervical dystonia. However, this case demonstrates that FXTAS can initially present with cervical dystonia.

View Article and Find Full Text PDF

This scientific commentary refers to ‘Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice’ by Çalışkan (https://doi.org/10/109/brain/awaf203).

View Article and Find Full Text PDF