Results 81 to 90 of about 32,086 (242)
ABSTRACT Objective Neurological soft signs (NSS) are minor, non‐localizable neurological abnormalities. This study aimed to investigate the factor structure of the Neurological Evaluation Scale. Material and Methods A total of 355 subjects (233 patients and 122 general population subjects). NSS were assessed using the NES.
Konstantinos N. Fountoulakis +4 more
wiley +1 more source
Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia +4 more
doaj +1 more source
Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai +9 more
doaj +1 more source
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
doaj +1 more source
Background and Purpose Riluzole, approved for amyotrophic lateral sclerosis (ALS), has a glutamate‐modulating profile favourable for mitigating opioid addiction. It reduces neuronal glutamate release and enhances glutamate reuptake, offering advantages over agents that only increase glutamate reuptake.
Ewa Galaj +7 more
wiley +1 more source
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry ...
Hélio A.G. Teive +4 more
doaj +1 more source
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Spinocerebellar Ataxia 21 with Retardation
Investigators at Universite de Lille Nord de France, and other centers in France, report the identification of a novel causative gene for spinocerebellar ataxia 21, an autosomal dominant disorder, initially mapped to chromosome 7 and designated as SCA21.
J Gordon Millichap, John J Millichap
doaj +1 more source

