Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
G Coarelli, M Coutelier, A Durr - The Lancet Neurology, 2023 - thelancet.com
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
[HTML][HTML] Tremor in Spinocerebellar Ataxia: A Scoping Review
A Mukherjee, S Pandey - Tremor and Other Hyperkinetic …, 2024 - ncbi.nlm.nih.gov
Background: Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal
dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum …
dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum …
Proteomic analysis of the human hippocampus identifies neuronal pentraxin 1 (NPTX1) as synapto‐axonal target in late‐stage Parkinson's disease
CC Warth Perez Arias, I Silbern… - Journal of …, 2023 - Wiley Online Library
Parkinson's disease (PD) affects a significant proportion of the population over the age of 60
years, and its prevalence is increasing. While symptomatic treatment is available for motor …
years, and its prevalence is increasing. While symptomatic treatment is available for motor …
Exosome-delivered circRPS5 inhibits the progression of melanoma via regulating the miR-151a/NPTX1 axis
H Zhu, P Zhang, J Shi, D Kou, X Bai - Plos one, 2023 - journals.plos.org
Background Circular RNAs (circRNAs) have been reported to exert critical functions in
tumorigenesis and development. However, the underlying mechanism by which circRNAs …
tumorigenesis and development. However, the underlying mechanism by which circRNAs …
Spatiotemporal gait analysis of patients with spinocerebellar ataxia types 3 and 10 using Inertial Measurement Units: a comparative study
Given the high morbidity related to the progression of gait deficits in spinocerebellar ataxias
(SCA), there is a growing interest in identifying biomarkers that can guide early diagnosis …
(SCA), there is a growing interest in identifying biomarkers that can guide early diagnosis …
The influence of HLA genetic variation on plasma protein expression
Genetic variation in the human leukocyte antigen (HLA) loci is associated with risk of
immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear …
immune-mediated diseases, but the molecular effects of HLA polymorphism are unclear …
Best-corrected visual acuity results facilitate molecular diagnosis of infantile nystagmus patients harboring FRMD7 mutations
J Xu, Y Chen, H Chen, J Wang, T Yan, X Yu… - Experimental Eye …, 2023 - Elsevier
The visual function of patients with infantile nystagmus (IN) can be significantly decreased
owing to constant eye movement. While, reaching a definitive diagnosis becomes a …
owing to constant eye movement. While, reaching a definitive diagnosis becomes a …
[PDF][PDF] A novel NPTX1 de novo variant in a late-onset ataxia patient
J Deppe, N Deininger, P Lingor, TB Haack… - Movement …, 2022 - mediatum.ub.tum.de
Recently, two missense mutations in NPTX1 were identified as a cause of autosomal
dominant cerebellar ataxia by triggering endoplasmic reticulum stress. 1 The NPTX1 …
dominant cerebellar ataxia by triggering endoplasmic reticulum stress. 1 The NPTX1 …
NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder
Oculomotor apraxia (OMA) is a rare and heavily disabling neurological disorder causing
severe difficulties in the initiation and maintenance of voluntary eye movements when the …
severe difficulties in the initiation and maintenance of voluntary eye movements when the …
[HTML][HTML] A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
J Schöggl, S Siegert, E Boltshauser… - Movement …, 2022 - ncbi.nlm.nih.gov
SCH Ö GGL ET AL ataxia with an autosomal dominant inheritance pattern. 1, 2 Here, we
report on a child affected by early-onset ataxia and cerebellar atrophy since infancy, who …
report on a child affected by early-onset ataxia and cerebellar atrophy since infancy, who …