Spinocerebellar ataxia
T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Polyglutamine spinocerebellar ataxias—from genes to potential treatments
HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
L Schöls, P Bauer, T Schmidt, T Schulte… - The Lancet …, 2004 - thelancet.com
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
known as spinocerebellar ataxias (SCA) in genetic nomenclature. In the pregenomic era …
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) …
Recessive cerebellar and afferent ataxias—clinical challenges and future directions
M Beaudin, M Manto, JD Schmahmann… - Nature Reviews …, 2022 - nature.com
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …
Spinocerebellar ataxia 2 (SCA2)
I Lastres-Becker, U Rüb, G Auburger - The cerebellum, 2008 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited,
neurodegenerative disease. It can manifest either with a cerebellar syndrome or as …
neurodegenerative disease. It can manifest either with a cerebellar syndrome or as …
The preclinical stage of spinocerebellar ataxias
RP Maas, J van Gaalen, T Klockgether… - Neurology, 2015 - AAN Enterprises
The autosomal dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of
degenerative diseases of the cerebellum and connected regions. The discovery of various …
degenerative diseases of the cerebellum and connected regions. The discovery of various …
Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches
LC Velázquez-Pérez, R Rodríguez-Labrada… - Frontiers in …, 2017 - frontiersin.org
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
Movement disorders in spinocerebellar ataxias
J van Gaalen, P Giunti… - Movement …, 2011 - Wiley Online Library
Autosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of
noncerebellar symptoms, including movement disorders. In fact, movement disorders are …
noncerebellar symptoms, including movement disorders. In fact, movement disorders are …
Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death
DP Huynh, HT Yang, H Vakharia… - Human molecular …, 2003 - academic.oup.com
Abstract Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a
polyglutamine (polyQ) repeat in ataxin-2, the SCA2 gene product. In contrast to other polyQ …
polyglutamine (polyQ) repeat in ataxin-2, the SCA2 gene product. In contrast to other polyQ …