Results 11 to 20 of about 2,684 (177)

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +2 more sources

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2 [PDF]

, 2018
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum and characterized by a typical motor syndrome.
A Durr, A Moriarty, AM Tedesco, AR Giovagnoli, C Brenneis, C Habas, C. Iacobacci, CJ Stoodley, CJ Stoodley, CJ Stoodley, D Milardi, D Wang, E Keren-Happuch, E Storey, EV Evarts, F Pira Le, FA Middleton, FM Krienen, G Allen, G Olivito, G Olivito, G. Olivito, GA Carlesimo, H Spinnler, I Klinke, J Diedrichsen, JA Bernard, JC Raven, JD Schmahmann, JD Schmahmann, JD Schmahmann, JG Borkowsky, JM Kemp, JT Pang, K Bürk, K Iwabuchi, K Kansal, M Dayan, M King, M Monaco, M. Bozzali, M. Cercignani, M. Leggio, M. Lupo, M. Masciullo, M. Molinari, MG Leggio, MP Heuvel van den, P Caffarra, P Trouillas, PM Corsi, R Chopra, R Della Nave, R Estrada, R Fancellu, R Krikorian, RL Buckner, S Clausi, S Gilman, S. Clausi, S. Romano, T Takahashi, Y Kawai, Z Yang   +63 more
core   +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

Cognitive Impairment in Spinocerebellar Degeneration [PDF]

European Neurology, 2009
It has been reported that patients with spinocerebellar degenerations (SCDs) have cognitive dysfunction as well as limb and truncal ataxia, dysarthria and dysphagia. We review cognitive dysfunction in common types of SCD, including spinocerebellar ataxia types 1, 2, 3, 6, and 17, dentatorubral-pallidoluysian atrophy, Friedreich’s ataxia, and multiple ...
Y, Kawai, M, Suenaga, H, Watanabe, G, Sobue   +3 more
openaire   +2 more sources

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia [PDF]

, 2010
Background Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world.
Gan Shi-Rui, Lu Chuan-Zhen, Murong Shen-Xing, Shi Sheng-Sheng, Wang Ning, Weng Sheng-Tong, Wu Jian-Jun, Wu Zhi-Ying, Zhao Gui-Xian   +8 more
core   +1 more source

Successful treatment of psychosis in dentatorubral‐pallidoluysian atrophy with quetiapine: A case report

Neuropsychopharmacology Reports, 2018
Introduction Patients with dentatorubral‐pallidoluysian atrophy (DRPLA) sometimes elicit psychosis. First‐generation antipsychotic drugs have been reported to be effective in treating psychotic symptoms associated with the disease.
Zui Narita, Tomiki Sumiyoshi
doaj   +1 more source

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources

Locomotor patterns in cerebellar ataxia [PDF]

, 2014
Several studies demonstrated how cerebellar ataxia (CA) affects gait, resulting in deficits in multi-joint coordination and stability. Nevertheless, how lesions of cerebellum influence the locomotor muscle pattern generation is still unclear.
Casali, C, Conte, C, d'Avella, A, Draicchio, F, Ivanenko, Y, Lacquaniti, F, Martino, G, Ranavolo, A, Serrao, M   +8 more
core   +1 more source

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Arquivos de Neuro-Psiquiatria
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior   +7 more
doaj   +1 more source