The hereditary ataxias
AH Koeppen - Journal of Neuropathology & Experimental …, 1998 - academic.oup.com
… of the hereditary ataxias would provide a firm classification of a group of disorders which on
… accompanied innumerable clinical reports on hereditary ataxia. The mode of transmission …
… accompanied innumerable clinical reports on hereditary ataxia. The mode of transmission …
The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients
… In summary, on the group level, the CCAS-Scale was able to detect cognitive involvement
in SCA3, but not in SCA6 and FRDA patients. These findings are not explained by disease …
in SCA3, but not in SCA6 and FRDA patients. These findings are not explained by disease …
Hereditary ataxias
VGH Evidente, KA Gwinn-Hardy, JN Caviness… - Mayo Clinic …, 2000 - Elsevier
… Because AVED is treatable, a high level of suspicion should … group of disorders that are
less common and less well characterized than the autosomal dominant and recessive ataxias. …
less common and less well characterized than the autosomal dominant and recessive ataxias. …
Genes involved in hereditary ataxias
T Klockgether, B Evert - Trends in neurosciences, 1998 - cell.com
… hereditary ataxias are a group of inherited neurodegenerative disorders characterized by
progressive ataxia … the expansion of the intronic GAA repeats causes reduced mRNA levels. …
progressive ataxia … the expansion of the intronic GAA repeats causes reduced mRNA levels. …
Quantitative oculomotor assessment in hereditary ataxia: systematic review and consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
… and quantified in many different hereditary ataxias [15], but … of the Ataxia Global Initiative
(AGI [16]) working group on … for clinical studies of hereditary ataxias. A particular focus is on …
(AGI [16]) working group on … for clinical studies of hereditary ataxias. A particular focus is on …
Cognition in hereditary ataxia
K Burk - The cerebellum, 2007 - Springer
… types, cognitive deficits in hereditary ataxias are not likely to be … of cerebrocerebellar
circuitries at various levels in the CNS. … The hereditary ataxias are a group of genetically defined …
circuitries at various levels in the CNS. … The hereditary ataxias are a group of genetically defined …
Neuropsychological profile of hereditary ataxias: study of 38 patients
… Hereditary ataxias are a heterogeneous group of disorders … It is known that patients with
ataxia can manifest a broad … No differences were found between groups regarding their level of …
ataxia can manifest a broad … No differences were found between groups regarding their level of …
The genetic basis of hereditary ataxia
T Klockgether, J Dichgans - Progress in Brain Research, 1997 - Elsevier
… The degenerative ataxias comprise a heterogeneous group of diseases which are clinically
… Almost all patients have increased serum levels of a-fetoprotein. Prognosis of AT is poor with …
… Almost all patients have increased serum levels of a-fetoprotein. Prognosis of AT is poor with …
A linkage study of hereditary ataxias and related disorders: Evidence of heterogeneity of dominant cerebellar ataxia
L Pedersen, P Platz, LP Ryder, LU Lamm, J Dissing - Human Genetics, 1980 - Springer
… Hereditary ataxias (HA) is a generic term for a group of hereditary progressing disorders
caused by degenerative lesions in the cerebellum, brainstem, posterior columns of the spinal …
caused by degenerative lesions in the cerebellum, brainstem, posterior columns of the spinal …
Milestones in ataxia
T Klockgether, H Paulson - Movement Disorders, 2011 - Wiley Online Library
… and mutations causing hereditary ataxias and elucidation of the … , the ataxias can be subdivided
into 3 major groups: the … assessment of cerebellar ataxia on an impairment level. SARA …
into 3 major groups: the … assessment of cerebellar ataxia on an impairment level. SARA …
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