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) …

SCA3: neurological features, pathogenesis and animal models

O Riess, U Rüb, A Pastore, P Bauer, L Schöls - The Cerebellum, 2008‏ - Springer
The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …

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 …

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 …

[HTML][HTML] Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation

I Lastres-Becker, D Nonis, F Eich, M Klinkenberg… - … et Biophysica Acta (BBA …, 2016‏ - Elsevier
Ataxin-2 is a cytoplasmic protein, product of the ATXN2 gene, whose deficiency leads to
obesity, while its gain-of-function leads to neural atrophy. Ataxin-2 affects RNA homeostasis …

Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives

JJ Magana, L Velázquez-Pérez, B Cisneros - Molecular neurobiology, 2013‏ - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant genetic disease
characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia …

A comprehensive review of spinocerebellar ataxia type 2 in Cuba

L Velázquez-Pérez, R Rodríguez-Labrada… - The Cerebellum, 2011‏ - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia
characterized by a progressive cerebellar syndrome associated to saccadic slowing …

Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy

A Marcelo, IT Afonso, R Afonso-Reis, DVC Brito… - Cell Death & …, 2021‏ - nature.com
Abstract Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic
neurodegenerative disorder. The disease is characterized by progressive degeneration of …

Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study

L Velázquez-Pérez, R Rodríguez-Labrada… - The Lancet …, 2014‏ - thelancet.com
Background The effects of ATXN2 expansion on the nervous system arise before the
cerebellar syndrome can be diagnosed; however, progression of the underlying early …