Results 101 to 110 of about 114,557 (289)

Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The progression of brain damage in CANVAS/RFC1 remains unclear. Objective To describe longitudinal brain changes in CANVAS/RFC1. Methods Ten RFC1‐positive patients and 10 controls underwent 3T‐MRI scans 2 years apart. We analyzed cerebral gray and white matter using FreeSurfer and DTI multiatlas, the cerebellum with CerebNet, and ...
Camila C. Lobo, Thiago J.R. Rezende, Luciana R. Pimentel‐Silva, Gustavo M. Jarola, Nadson B.S. Santos, Gabriel da Silva Schmitt, Paula C.A.A.P. Matos, Fabrício D. Lima, Alberto R.M. Martinez, Orlando G.P. Barsottini, José Luiz Pedroso, Wilson Marques Jr,, Marcondes C. França Jr,   +12 more
wiley   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 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

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders, EarlyView.
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian, Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D'Arco, Sajjad Biglari, Pooneh Nikuei, Joseph G. Gleeson, Meriem Tazir, Lamia Ali Pacha, Henry Houlden   +11 more
wiley   +1 more source

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study [PDF]

, 2013
Background: All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6 are the four most common SCAs, all caused by expanded polyglutamine-coding CAG repeats.
Ashizawa, Tetsuo, Bushara, Khalaf O, Cuthbertson, David, Ferguson, John H, Figueroa, Karla P, Geschwind, Michael D, Gomez, Christopher M, Holbert, Amy Roberts, Krischer, Jeffrey P, Kuo, Sheng-Han, Mazzoni, Pietro, Paulson, Henry L, Perlman, Susan L, Pulst, Stefan M, Schmahmann, Jeremy D, Shakkottai, Vikram G, Subramony, SH, Wilmot, George R, Xia, Guangbin, Ying, Sarah H, Zesiewicz, Theresa A   +20 more
core   +5 more sources

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia

Movement Disorders, EarlyView.
Abstract Background Current clinical scales that track disease progression are more tailored to spasticity or ataxia, with limited sensitivity to change. Objectives The aim was to develop a sensitive and valid scale specifically geared towards optimized sensitivity to change and adapted to patients presenting with both spasticity and ataxia.
Cécile Di Folco, Charlotte Dubec‐Fleury, Andreas Traschütz, Christoph Kessler, Selina Reich, Cynthia Gagnon, Isabelle Lessard, Xavier Rodrigue, Sirio Cocozza, Sara Satolli, Filippo M. Santorelli, Alexandra Durr, Anna Heinzmann, Bart P. van de Warrenburg, Ilse H.J. Willemse, A. Nazli Başak, Atay Vural, Bernard Brais, Stephan Klebe, Rita Horvath, PROSPAX Consortium, May Yung Tiet, Heather Biggs, Emma Harrison, Dagmar Timmann, Nicole Jeschonneck, Paulina Cunha, Hortense Hurmic, Lucie Pierron, Giulia Coarelli, Claire Ewenczyk, Ivana Ricca, Melissa Barghigiani, Nazan Akkaya, Özgür Öztop Çakmak, Rebecca Schüle, Matthis Synofzik, Sophie Tezenas du Montcel   +37 more
wiley   +1 more source

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India

Annals of Indian Academy of Neurology, 2014
Background: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). Aims and Objectives: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype ...
Debabrata Pulai, Deb Shankar Guin, Kalyan B Bhattacharyya, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Atanu Biswas, Alak Pandit, Arijit Roy, Asit Kumar Senapati   +9 more
doaj   +1 more source

Microstructural MRI basis of the cognitive functions in patients with Spinocerebellar ataxia type 2 [PDF]

, 2005
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum. The particular atrophy pattern results in some typical clinical features mainly including motor deficits.
Bozzali, M, Cercignani, M, Clausi, S, Iacobacci, C, Leggio, M, Lupo, M, Masciullo, M, Molinari, M, Olivito, G, Romano, S   +9 more
core   +1 more source

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

Neurology: Genetics, 2019
Objective To identify the genetic cause of autosomal dominant spinocerebellar ataxia and retinitis pigmentosa in a large extended pedigree. Methods Clinical studies were done at 4 referral centers. Ten individuals in the same extended family participated
C. Xiao, Elaine M. Binkley, Jessica E Rexach, Amy Knight-Johnson, Pravin Khemani, B. Fogel, Soma Das, Edwin M. Stone, C. Gomez   +8 more
semanticscholar   +1 more source