Natural history and epidemiology of the spinocerebellar ataxias: Insights from the first description to nowadays
SS de Oliveira Scott, JL Pedroso, OGP Barsottini… - Journal of the …, 2020 - Elsevier
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant
inherited diseases that share the degeneration of the cerebellum and its connections as …
inherited diseases that share the degeneration of the cerebellum and its connections as …
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 …
Polyglutamine ataxias: our current molecular understanding and what the future holds for antisense therapies
Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all
caused by an expanded CAG trinucleotide repeat located in the coding region of each …
caused by an expanded CAG trinucleotide repeat located in the coding region of each …
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 …
caused by an expanded pentanucleotide repeat in the ATXN10 gene. This repeat …
Development of a Polymeric Pharmacological Nanocarrier System as a Potential Therapy for Spinocerebellar Ataxia Type 7
FV Borbolla-Jiménez, IA García-Aguirre… - Cells, 2023 - mdpi.com
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant inherited disease
characterized by progressive ataxia and retinal degeneration. SCA7 belongs to a group of …
characterized by progressive ataxia and retinal degeneration. SCA7 belongs to a group of …
Extended haplotype with rs41524547-G defines the ancestral origin of SCA10
KN McFarland, A Tiwari, V Hashem… - Human Molecular …, 2024 - academic.oup.com
Abstract Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia
caused by a large expansion of the (ATTCT) n repeat in ATXN10. SCA10 was described in …
caused by a large expansion of the (ATTCT) n repeat in ATXN10. SCA10 was described in …
Spinocerebellar ataxia type 2 has multiple ancestral origins
LS Sena, GV Furtado, JL Pedroso, O Barsottini… - Parkinsonism & Related …, 2024 - Elsevier
Introduction Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder
due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies …
due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. Previous studies …
Thymidine kinase 2 and mitochondrial protein COX I in the cerebellum of patients with spinocerebellar ataxia type 31 caused by penta-nucleotide repeats (TTCCA) n
H Aoki, M Higashi, M Okita, N Ando, S Murayama… - The Cerebellum, 2023 - Springer
Abstract Spinocerebellar ataxia type 31 (SCA31), an autosomal-dominant
neurodegenerative disorder characterized by progressive cerebellar ataxia with Purkinje …
neurodegenerative disorder characterized by progressive cerebellar ataxia with Purkinje …
Estimated familial amyotrophic lateral sclerosis proportion: a literature review and meta-analysis
J Barberio, C Lally, V Kupelian, O Hardiman… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative
disorder. Familial (fALS) cases are usually reported to constitute 5%–10% of all ALS cases; …
disorder. Familial (fALS) cases are usually reported to constitute 5%–10% of all ALS cases; …