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Author

E. Valente

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Open access Oct 2026

Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

Biallelic loss-of-function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)-resident thioredoxin-domain protein required for ciliary transition zone integrity. Many ciliopathy genes show a spectrum of severity, producing a cl...

Z. Sentell, Rob Geraghty, Juliana E. Arcila-Galvis et al. · 0 citations
Case report Open access Oct 2026

TTC21B: From Modifier to Causative Gene in Joubert Syndrome.

Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with...

Valentina Serpieri, F. D'Abrusco, A. Pichiecchio et al. · 0 citations
Open access Oct 2026

Timing of Deep Brain Stimulation and Cognitive Trajectories in GBA1-Associated Parkinson's Disease.

BACKGROUND Individuals with Parkinson's disease (PD) carrying GBA1 variants often develop advanced motor complications that prompt evaluation for deep brain stimulation (DBS). However, concerns about accelerated cognitive decline after DBS in GBA1 carriers complicate clinical decision making. A critical aspect that is...

E. Asimakidou, M. Avenali, J. Aasly et al. · 0 citations
Open access Jul 2026

Association of GBA1 status and sex with depression severity and progression in Parkinson's disease.

GBA1 variants increase neuropsychiatric vulnerability in Parkinson's disease (PD). In a multicenter cohort of 234 PD patients (78 GBA-PD, 156 nonGBA-PD), we investigated how GBA1 genotype and sex relate to depression. REM sleep behavior disorder was associated with depression in GBA-PD, while sex, cognition, and motor...

P. Mitrotti, M. Avenali, C. Artusi et al. · 0 citations
Aug 2026

GCH1 genetic variation as a prognostic factor in Parkinson disease across populations

GCH1 pathogenic variants were associated with a clinically distinct phenotype characterized by earlier disease onset and slower progression of motor complications, suggesting that GCH1 genetic variants may serve as genetic biomarkers for patient stratification and prognosis in PD.

J. Shin, M. T. Periñán, J. W. Jang et al. · 0 citations

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