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Spinocerebellar Ataxia

Pediatric Neurology Briefs, 1988
The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj   +3 more sources

Unmasking cerebellar disease: functional neurologic disorder as a precursor to spinocerebellar ataxia type 8. [PDF]

Neurol Sci
Jimsheleishvili S, Crandon D, Margolesky J.   +2 more
europepmc   +3 more sources

Spinocerebellar Ataxia [PDF]

Ophthalmology, 2017
Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types.
Scott Wentz, Denis Jusufbegovic
openaire   +4 more sources

Spinocerebellar ataxias [PDF]

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, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
Alexander K. C. Leung, Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Bennett Myers, David N. Herrmann, Vikram K. Mahajan, Nand Lal Sharma, Surender Kashyap, C. Ronald Scott, Natalie Gall, Katrin Welt, Karin Scharffetter-Kochanek, Matthew Harries, Tobias Fischer, Ralf Paus, Cornelius F. Boerkoel, Leah I. Elizondo, Thomas Lücke, Markus M. Nöthen, Marcella Rietschel, Undine E. Lang, Sophie Nicole, Bertrand Fontaine, Alexander K. C. Leung, William Lane M. Robson, Thomas Krieg, Julia Weihrauch, Sergio A. Jimenez, Hugo Ten Cate, Itshak Zusman, Pavel Gurevich, Herzl Ben-Hur, Jutta Keller, Jiri Litzman, Yaofeng Zhao, Lennart Hammarstöm, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Margherita Bergomi, Carlotta Malagoli, Marco Vinceti, Marie-Estelle Dupont, Olivier Guilbaud, Hermann-Josef Gröne, Zoran V. Popovic, Mario Mancini, Batya B. Davidovici, Batsheva Marcos, Edith Orion, Ronni Wolf, Jean-Louis Vincent, Giora Z. Feuerstein, James C. Keith, Robert R. Ruffolo, Cord Sunderkötter, M. Murat Naki, Cevahir Tekcan, M. Murat Naki, Cevahir Tekcan, Amy S. Rawls, Daniel C. Link, Carolina Reitzenstein, Jürgen Kopitz, Michael Cantz, Michael Cantz, Johannes Uhl, Jürgen Kopitz, John-John B. Schnog, Victor E. A. Gerdes, Bärbel Schütte, Samuel J. Arbes, Darryl C. Zeldin, Alessandra Baumer, Hans-Peter Zenner, Brandy J. Harvey, Jyh-Yeuan Lee, Ina L. Urbatsch, Jan Rémi, Soheyl Noachtar, Alexander K. C. Leung, Sarah H. Elsea, Santhosh Girirajan, Chee-Keong Toh, Cord Sunderkötter, Rebecca Schüle, Ludger Schöls, Niels Borregaard, Jack B. Cowland, John-John B. Schnog, Victor E. A. Gerdes, Alexander K. C. Leung, Laura E. Mitchell, Analee J. Etheredge, Denise S. Hill, Richard H. Finnell, Meinhard Schiller, Dorothee Nashan, Cord Sunderkötter, Stefan Reuter, David Geneviève, Valérie Cormier-Daire, Jozef Gécz, Ravi Savarirayan, Yves Le Loir, Michel Gautier, Cord Sunderkötter, Jean-Michel Rozet, Josseline Kaplan, Katarzyna Lukasiuk, Asla Pitkänen, Stephan Haas, Sören Siegmund, Manfred V. Singer, Henryk Dancygier, Mark Oette, Vicente Andrés, Rainer Wessely, Alexander K. C. Leung, Deborah P. Merke, Alexander K. C. Leung, Kam-Lun Ellis Hon, Jutta Engel, Hans-Michael Meinck, Amei Ludwig, Hartmut Hengel, John-John B. Schnog, Victor E. A. Gerdes, Giora Z. Feuerstein, Xinkang Wang, Ivor L. Gerber, Eric Sibley, Akihiro Takatsu, Brigitta Bondy, Daniel Markovich, Ting-Ting Huang, Charles J. Epstein, Hilmar Prange   +150 more
openaire   +4 more sources

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease

Advanced Biomedical Research, 2023
Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare, Hosein Saneian, Majid Khademian   +2 more
doaj   +1 more source

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia

Journal of Veterinary Internal Medicine, 2023
Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck, Mario Van Poucke, Kimberley Stee, Nicolas Granger, Edward Ives, Iris Van Soens, Ine Cornelis, Kenny Bossens, Luc Peelman, Luc Van Ham, Sofie F. M. Bhatti   +10 more
doaj   +1 more source

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

Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

Frontiers in Human Neuroscience, 2023
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen, Siyu Li, Ying Liu, Renyi She, Wei Jiang   +4 more
doaj   +1 more source

A Case of Orthognathic Surgery for Jaw Deformity in a Patient with Spinocerebellar Ataxia

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease that can cause various ataxia symptoms. Here we report a patient with spinocerebellar ataxia who underwent orthognathic surgery to correct a mandibular protrusion with ...
Marika Sato, DDS, PhD, Yoko Kawase-Koga, DDS, PhD, Hayato Hamada, DDS, PhD, Daichi Chikazu, DDS, PhD   +3 more
doaj   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source