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) …

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 …

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice

E Damrath, MV Heck, S Gispert, M Azizov, J Nowock… - 2012 - journals.plos.org
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding
triplet repeat in the human ATXN2 gene beyond (CAG) 31. This is thought to mediate toxic …

The parkinsonian phenotype of spinocerebellar ataxia type 2

CS Lu, YHW Chou, PC Kuo, HC Chang… - Archives of …, 2004 - jamanetwork.com
Background We recently reported that spinocerebellar ataxia type 2 (SCA2) caused familial
parkinsonism in 2 brothers with predominant symptoms of resting tremor, rigidity, and …

Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)

I Tuin, U Voss, JS Kang, K Kessler, U Rub, D Nolte… - Neurology, 2006 - AAN Enterprises
Background: Autosomal dominant spinocerebellar ataxia type 2 (SCA2) bears clinical and
neuropathologic similarities to sporadic multisystem atrophy (MSA) or Parkinson disease, in …

Atrophy pattern in SCA2 determined by voxel-based morphometry

C Brenneis, SM Bösch, M Schocke, GK Wenning… - …, 2003 - journals.lww.com
We applied voxel-based morphometry, an indirect volumetric technique, to MRI volumes of
patients carrying the spinocerebellar ataxia type 2 mutation to determine patterns of brain …

Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis

J Infante, O Combarros, V Volpini… - Acta neurologica …, 2005 - Wiley Online Library
Introduction–The genetic and clinical profile of autosomal dominant cerebellar ataxias
(ADCA) displays marked geographical and ethnical variability. Materials and methods–We …

Diagnostic considerations in juvenile parkinsonism

DC Paviour, RAH Surtees… - … disorders: official journal of …, 2004 - Wiley Online Library
Juvenile parkinsonism (JP) describes patients in whom the clinical features of parkinsonism
manifest before 21 years of age. Many reported cases that had a good response to levodopa …

Spinocerebellar ataxia type 2 with levodopa‐responsive parkinsonism culminating in motor neuron disease

J Infante, J Berciano, V Volpini, J Corral… - Movement …, 2004 - Wiley Online Library
We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining
cerebellar ataxia, levodopa‐responsive parkinsonism, and motor neuron symptoms. We …

Dopa‐responsive parkinsonism phenotype of spinocerebellar ataxia type 2

CS Lu, YH Wu Chou, TC Yen, CH Tsai… - … : official journal of the …, 2002 - Wiley Online Library
We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome
consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 …