Results 21 to 30 of about 6,068 (173)

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Journal of Medical Case Reports, 2023
Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala, Kathie J. Ngo, Sabrina M. Pagnoni, Alberto L. Rosa, Brent L. Fogel   +4 more
doaj   +1 more source

PLD3 and spinocerebellar ataxia [PDF]

Brain, 2018
sponsorship: Funding was provided by the Alzheimer Forschung Initiative e.V. (M.D.) and the Deutsche Forschungsgemeinschaft (GRK 1459) (P.S.). AC.G. is supported by the Hans & Ilse Breuer foundation. D.M. is supported by National Institutes of Health (NIH) grant R21AI126011. (Alzheimer Forschung Initiative e.V., Deutsche Forschungsgemeinschaft|GRK 1459,
Gonzalez, Adriana Carolina, Stroobants, Stijn, Reisdorf, Pia, Gavin, Amanda Lee, Nemazee, David, Schwudke, Dominik, D'Hooge, Rudi, Saftig, Paul, Damme, Markus   +8 more
openaire   +4 more sources

Parkinsonism in Spinocerebellar Ataxia [PDF]

BioMed Research International, 2015
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung, Kim, Han-Joon, Jeon, Beom S.   +2 more
openaire   +2 more sources

Spinocerebellar ataxia: an update [PDF]

Journal of Neurology, 2018
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include
Sullivan, R, Yau, WY, O'Connor, E, Houlden, H   +3 more
openaire   +3 more sources

Phenotypic and genetic aspects of hereditary ataxia in dogs

Journal of Veterinary Internal Medicine, 2023
Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome.
Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F.M. Bhatti   +6 more
doaj   +1 more source

Hereditary Cerebellar Ataxias: A Korean Perspective [PDF]

Journal of Movement Disorders, 2015
Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements.
Ji Sun Kim, Jin Whan Cho
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

The Spinocerebellar Ataxias [PDF]

Journal of Neuro-Ophthalmology, 2009
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
openaire   +2 more sources

Sleep disorders in cerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2011
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias ...
José L. Pedroso, Pedro Braga-Neto, André C. Felício, Camila C.H. Aquino, Lucila B. Fernandes do Prado, Gilmar Fernandes do Prado, Orlando G.P. Barsottini   +6 more
doaj   +1 more source

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Case Reports in Neurology, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo   +3 more
doaj   +1 more source