Results 21 to 30 of about 11,829 (290)

The neurological update: therapies for cerebellar ataxias in 2020. [PDF]

, 2020
Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. Our understanding of the mechanisms leading to the clinical deficits has improved over these last decades,
Feil, K, Strupp, M, Brémovà-Ertl, T., Gandini, J, Manto, Mario   +4 more
core   +1 more source

Ataxia [PDF]

Continuum, 2019
This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function.
openaire   +2 more sources

Motor and Cerebellar Architectural Abnormalities during the Early Progression of Ataxia in a Mouse Model of SCA1 and How Early Prevention Leads to a Better Outcome Later in Life

Frontiers in Cellular Neuroscience, 2017
Exposing developing cerebellar Purkinje neurons (PNs) to mutant Ataxin1 (ATXN1) in 82Q spinocerebellar ataxia type 1 (SCA1) mice disrupts motor behavior and cerebellar climbing fiber (CF) architecture from as early as 4 weeks of age.
Mohamed F. Ibrahim, Emmet M. Power, Kay Potapov, Ruth M. Empson   +3 more
doaj   +1 more source

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Arquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
Jose Luiz Pedroso, Pedro Braga-Neto, Irapua Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

Dystonia and ataxia progression in spinocerebellar ataxias [PDF]

Parkinsonism & Related Disorders, 2017
Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA ( host institution ), Kuo, Pei-Hsin ( author ), Gan, Shi-Rui ( author ), Wang, Jie ( author ), Lo, Raymond Y. ( author ), Figueroa, Karla P. ( author ), Tomishon, Darya ( author ), Pulst, Stefan M. ( author ), Perlman, Susan ( author ), Wilmot, George ( author ), Gomez, Christopher M. ( author ), Schmahmann, Jeremy D. ( author ), Paulson, Henry ( author ), Shakkottai, Vikram G. ( author ), Ying, Sarah H. ( author ), Zesiewicz, Theresa ( author ), Bushara, Khalaf ( author ), Geschwind, Michael D. ( author ), Xia, Guangbin ( author ), Subramony, S.H. ( UF author ), Ashizawa, Tetsuo ( author ), Kuo, Sheng-Han ( author )   +21 more
openaire   +4 more sources

Ataxia Telangiectasia [PDF]

New England Journal of Medicine, 1970
The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Hong, A J, Ammann
  +7 more sources

The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias

Brain Sciences, 2023
In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients’ health related to quality of life (HRQoL).
Olivera Tamaš, Gorica Marić, Milutin Kostić, Andona Milovanović, Katarina Đurđević, Biljana Salak Đokić, Elka Stefanova, Tatjana Pekmezović, Nataša Dragašević-Mišković   +8 more
doaj   +1 more source

Ataxia

Movement Disorders Clinical Practice
Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including ...
Katsuki Eguchi, Hiroaki Yaguchi, Ichiro Yabe   +2 more
openaire   +5 more sources

Spinocerebellar ataxias Ataxias espinocerebelares

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
doaj   +1 more source

Friedreich Ataxia [PDF]

Journal of the Neurological Sciences, 2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire   +10 more sources