Brain pathology of spinocerebellar ataxias

K Seidel, S Siswanto, ERP Brunt, W Den Dunnen… - Acta …, 2012 - Springer
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

HP Handler, L Duvick, JS Mitchell, M Cvetanovic… - Neuron, 2023 - cell.com
Summary Spinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat
neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and …

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

K Reetz, AS Costa, S Mirzazade, A Lehmann, A Juzek… - Brain, 2013 - academic.oup.com
Spinocerebellar ataxias are dominantly inherited disorders that are associated with
progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of …

HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

GHP Tazelaar, S Boeynaems, M De Decker… - Brain …, 2020 - academic.oup.com
Increasingly, repeat expansions are being identified as part of the complex genetic
architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been …

Genetic polymorphisms and their association with the prevalence and severity of chronic postsurgical pain: a systematic review

DMN Hoofwijk, RRI van Reij, BP Rutten… - BJA: British Journal …, 2016 - academic.oup.com
Background: Although several patient characteristic, clinical, and psychological risk factors
for chronic postsurgical pain (CPSP) have been identified, genetic variants including single …

Loss of ataxin-1 potentiates Alzheimer's pathogenesis by elevating cerebral BACE1 transcription

J Suh, DM Romano, L Nitschke, SP Herrick… - Cell, 2019 - cell.com
Expansion of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1
(SCA1), a neurodegenerative disease that impairs coordination and cognition. While ATXN1 …

Neurodegenerative cerebellar ataxia

LS Rosenthal - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Neurodegenerative cerebellar ataxia is a diverse collection of
diseases that are unified by gait and balance abnormalities, appendicular incoordination …

The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum

V Olmos, N Gogia, K Luttik, F Haidery, J Lim - Cellular and Molecular Life …, 2022 - Springer
Abstract Spinocerebellar ataxia type 1 (SCA1) is one of nine polyglutamine (polyQ) diseases
and is characterized as an adult late-onset, progressive, dominantly inherited genetic …