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 …
neurodegeneration and, in many patients, epilepsy. This disease mainly occurs in …
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
LE Novis, RS Frezatti, D Pellerin, PJ Tomaselli… - Neurology …, 2023 - AAN Enterprises
Objectives Intronic FGF14 GAA repeat expansions have recently been found to be a
common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology …
common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology …
Polyneuropathy in Patients with Spinocerebellar Ataxias Types 2, 3, and 10: A Systematic Review
AE de Almeida Franzoi, GF da Silva… - The Cerebellum, 2024 - Springer
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with a low
prevalence, for which more than 50 types have been described. This group of …
prevalence, for which more than 50 types have been described. This group of …
Volumetric MRI changes in spinocerebellar ataxia (SCA3 and SCA10) patients
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 …
in southern Brazil. To analyze the relationships between volumetric MRI changes and …
Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited …
DBV Moraes, TLC Coradine, EVL Silva… - The Cerebellum, 2024 - Springer
Spinocerebellar ataxias (SCAs) have a worldwide average prevalence of 2.7 cases per
100,000 individuals, with significant geographic variability. This study aimed to develop …
100,000 individuals, with significant geographic variability. This study aimed to develop …
Ataxias in Brazil: 17 years of experience in an ataxia center
BK Massuyama, MTD Gama, TYT Silva… - Arquivos de Neuro …, 2024 - thieme-connect.com
Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also
be a presenting feature in hereditary spastic paraplegias (HSPs). Objective To report a …
be a presenting feature in hereditary spastic paraplegias (HSPs). Objective To report a …
Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro
MP Alvarenga, LC Siciliani, RS Carvalho… - Neurological …, 2022 - Springer
Objective The objective of this study is to describe the first series of spinocerebellar ataxia
(SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and …
(SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and …
Upward gaze palsy: a valuable sign to distinguish spinocerebellar ataxias
GL Franklin, AT Meira, CHF Camargo, FA Nascimento… - The Cerebellum, 2020 - Springer
Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases,
with great phenotypic and genotypic heterogeneity. However, in the clinical neurological …
with great phenotypic and genotypic heterogeneity. However, in the clinical neurological …
Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion
T Matsuura, T Ashizawa - Triple Repeat Diseases of the Nervous Systems, 2002 - Springer
Abstract Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disease
characterized by ataxia and seizures. 1–3 It belongs to a group of diseases known as …
characterized by ataxia and seizures. 1–3 It belongs to a group of diseases known as …
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
LE Novis, S Alavi, D Pellerin, MV Della Coleta… - Parkinsonism & Related …, 2024 - Elsevier
Abstract Introduction Hereditary ataxias (HAs) encompass a diverse and genetically intricate
group of rare neurodegenerative disorders, presenting diagnostic challenges. Whole-exome …
group of rare neurodegenerative disorders, presenting diagnostic challenges. Whole-exome …