Cerebellar astrocytes: much more than passive bystanders in ataxia pathophysiology

V Cerrato - Journal of clinical medicine, 2020 - mdpi.com
Ataxia is a neurodegenerative syndrome, which can emerge as a major element of a
disease or represent a symptom of more complex multisystemic disorders. It comprises …

Founder effects of spinocerebellar ataxias in the American continents and the Caribbean

R Rodríguez-Labrada, AC Martins, JJ Magaña… - The Cerebellum, 2020 - Springer
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant
disorders. The relative frequency of the different SCA subtypes varies broadly among …

Volumetric MRI changes in spinocerebellar ataxia (SCA3 and SCA10) patients

WO Arruda, AT Meira, SE Ono, A de Carvalho Neto… - The Cerebellum, 2020 - Springer
Abstract Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent
in southern Brazil. To analyze the relationships between volumetric MRI changes and …

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10

T Kurosaki, T Ashizawa - Frontiers in Genetics, 2022 - frontiersin.org
Spinocerebellar ataxia type 10 (SCA10) is characterized by progressive cerebellar
neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in …

Circ8199 encodes a protein that inhibits the activity of OGT by JAK2-STAT3 pathway in esophageal squamous cell carcinoma

CJ Li, DG Li, EJ Liu, GZ Jiang - American Journal of Cancer …, 2023 - pmc.ncbi.nlm.nih.gov
Esophageal squamous cell carcinoma (ESCC) is an invasive malignant tumor with a high
incidence rate and mortality. It is imperative to study its tumorigenesis and development for …

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10

CAM Torres, F Zafar, YC Tsai, JP Vazquez… - Human Genetics and …, 2022 - cell.com
Summary Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder
caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat …

[HTML][HTML] Mechanistic and therapeutic insights into ataxic disorders with pentanucleotide expansions

N Zhang, T Ashizawa - Cells, 2022 - mdpi.com
Pentanucleotide expansion diseases constitute a special class of neurodegeneration. The
repeat expansions occur in non-coding regions, have likely arisen from Alu elements, and …

Cerebellar degeneration signature in Huntington's disease

G Padron-Rivera, R Diaz, I Vaca-Palomares, A Ochoa… - The Cerebellum, 2021 - Springer
Recent findings suggest a significant effect of the cerebellar circuit deterioration on the
clinical manifestation of Huntington's disease, calling for a better understanding of the …

Cerebellar abnormalities on proton MR spectroscopy and imaging in patients with gluten ataxia: a pilot study

V Rawat, R Tyagi, I Singh, P Das… - Frontiers in Human …, 2022 - frontiersin.org
Gluten ataxia is a rare immune-mediated neurological disorder caused by the ingestion of
gluten. The diagnosis is not straightforward as antibodies are present in only up to 38% of …

Cognitive impairments in spinocerebellar ataxia type 10 and their relation to cortical thickness

A Chirino‐Pérez, I Vaca‐Palomares… - Movement …, 2021 - Wiley Online Library
Background Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the
expansion of an ATTCT pentanucleotide repeat. Its clinical features include ataxia and, in …