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 …
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) …
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 …
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
Spinocerebellar ataxias are dominantly inherited disorders that are associated with
progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of …
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 …
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 …
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 …
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 …
(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 …
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
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 …
and is characterized as an adult late-onset, progressive, dominantly inherited genetic …