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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).
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12404712 | PMC |
http://dx.doi.org/10.1093/brain/awaf265 | DOI Listing |
Mov Disord
July 2025
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
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.
J Neurol
August 2025
Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.
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.
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September 2025
Omagari Kosei Medical Center, Department of Neurology, Japan.
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 PDFBrain
September 2025
MIND Institute, UCDH, Sacramento, CA, USA.
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