Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family
M Ragno, AC Perretti, I Castaldo, M Scarcella… - Neurological …, 2005 - Springer
The objective was to determine the progression of nervous system involvement in
spinocerebellar ataxia type 1 (SCA1). Three presymptomatic members of an Italian SCA1 …
spinocerebellar ataxia type 1 (SCA1). Three presymptomatic members of an Italian SCA1 …
Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument
H Jacobi, M Rakowicz, R Rola, R Fancellu, C Mariotti… - The Cerebellum, 2013 - Springer
Although ataxia is by definition the prominent symptom of ataxia disorders, there are various
neurological signs that may accompany ataxia in affected patients. Reliable and quantitative …
neurological signs that may accompany ataxia in affected patients. Reliable and quantitative …
[HTML][HTML] Spinocerebellar ataxias
HAG Teive - Arquivos de neuro-psiquiatria, 2009 - SciELO Brasil
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative
diseases characterized by progressive cerebellar ataxia in association with some or all of …
diseases characterized by progressive cerebellar ataxia in association with some or all of …
Spinocerebellar ataxia type 1: one-year longitudinal study to identify clinical and MRI measures of disease progression in patients and presymptomatic carriers
Abstract Spinocerebellar ataxias type 1 (SCA1) is an autosomal dominant disease usually
manifesting in adulthood. We performed a prospective 1-year longitudinal study in 14 …
manifesting in adulthood. We performed a prospective 1-year longitudinal study in 14 …
Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese
K Abe, Y Itoyama - European Journal of Neurology, 1997 - Wiley Online Library
To evaluate the psychological consequences of genetic testing for spinocerebellar ataxia
(SCA), state and trait anxiety inventories (SAI and TAI) and social desirability scale (SDS) …
(SCA), state and trait anxiety inventories (SAI and TAI) and social desirability scale (SDS) …
Cognitive deficits in spinocerebellar ataxia 2
K Bürk, C Globas, S Bösch, S Gräber, M Abele, A Brice… - Brain, 1999 - academic.oup.com
This is one of the first studies assessing the pattern of cognitive impairment in
spinocerebellar ataxia 2 (SCA2). Cognitive function was studied in 17 patients with …
spinocerebellar ataxia 2 (SCA2). Cognitive function was studied in 17 patients with …
[HTML][HTML] Comparison of cognitive profiles in spinocerebellar ataxia subtypes: a case series
C Bolton, M Lacy - Cerebellum & Ataxias, 2019 - Springer
Background The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive
neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the …
neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the …
Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables
F Le Pira, G Zappalà, R Saponara, E Domina… - Journal of the …, 2002 - Elsevier
Several authors have recently reported a broad cognitive impairment in autosomal dominant
cerebellar ataxias (ADCAs) patients. However, only a few studies on neuropsychological …
cerebellar ataxias (ADCAs) patients. However, only a few studies on neuropsychological …
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated …
V Juvonen, M Hietala, V Kairisto… - Acta neurologica …, 2005 - Wiley Online Library
Objectives–Frequency and distribution of dominant ataxias caused by dynamic mutations
may vary in different populations, which has been explained on the basis of relative …
may vary in different populations, which has been explained on the basis of relative …
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
H Jacobi, P Bauer, P Giunti, R Labrum, MG Sweeney… - Neurology, 2011 - AAN Enterprises
Objective: To obtain quantitative data on the progression of the most common
spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we …
spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we …