The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP)
are two groups of neurodegenerative disorders that usually present with progressive gait …
are two groups of neurodegenerative disorders that usually present with progressive gait …
Machado–Joseph disease/spinocerebellar ataxia type 3
H Paulson - Handbook of clinical neurology, 2012 - Elsevier
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review …
(SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review …
Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes
RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer… - The Cerebellum, 2014 - Springer
This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …
Spinocerebellar ataxias
BW Soong, PJ Morrison - Handbook of clinical neurology, 2018 - Elsevier
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …
[PDF][PDF] Epidemiology and population genetics of degenerative ataxias
J Sequeiros, S Martins, I Silveira - Handb Clin Neurol, 2012 - researchgate.net
The hereditary ataxias are clinically and genetically very heterogeneous. They are mainly
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …
characterized by gait and limb ataxia, dysarthria, a variable degree of oculomotor …
Resolving complex tandem repeats with long reads
A Ummat, A Bashir - Bioinformatics, 2014 - academic.oup.com
Motivation: Resolving tandemly repeated genomic sequences is a necessary step in
improving our understanding of the human genome. Short tandem repeats (TRs), or …
improving our understanding of the human genome. Short tandem repeats (TRs), or …
[HTML][HTML] Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management
T van Prooije, NM Ibrahim, S Azmin… - Parkinsonism & Related …, 2021 - Elsevier
This paper reviews and summarizes three main aspects of spinocerebellar ataxias (SCA) in
the Asian population. First, epidemiological studies were comprehensively reviewed …
the Asian population. First, epidemiological studies were comprehensively reviewed …
[HTML][HTML] Spinocerebellar ataxia
J Bhandari, PK Thada, D Samanta - 2020 - europepmc.org
Objectives: Identify the etiology of spinocerebellar ataxia medical conditions and
emergencies. Review the appropriate evaluation of spinocerebellar ataxia. Outline the …
emergencies. Review the appropriate evaluation of spinocerebellar ataxia. Outline the …
ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia
E Rubino, C Mancini, S Boschi, P Ferrero… - Neurobiology of …, 2019 - Elsevier
Common genetic risk factors are associated with frontotemporal dementia (FTD) and
amyotrophic lateral sclerosis (ALS). Intermediate repeat expansions at the Ataxin-2 locus …
amyotrophic lateral sclerosis (ALS). Intermediate repeat expansions at the Ataxin-2 locus …
Spinocerebellar ataxia type 1
S Di Donato, C Mariotti, F Taroni - Handbook of clinical neurology, 2012 - Elsevier
Abstract Spinocerebellar ataxia type 1 (SCA1) is one out of nine polyglutamine diseases, a
group of late-onset neurodegenerative diseases present only in humans. SCA1, the first …
group of late-onset neurodegenerative diseases present only in humans. SCA1, the first …