Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…Impulsivity and Compulsivity in Cerebellar Ataxias
Objective: To elucidate the role of human cerebellum in the reward processing system, of which a new cerebellar circuitry was recently identified in mice [1].…Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3
Objective: We herein report a 20 years old female, who presented with axial myoclonus, dysarthria and gait ataxia. Background: Autosomal recessive ataxias are a group…Measurement of speech as a biomarker of neurodegenerative disease using acoustic profiles and machine learning
Objective: To examine the utility of speech biometrics for describing and delineating neurodegenerative diseases using acoustic measures and machine learning procedures. Background: Progressive neurological disorders…Characterization of ataxia in Sjogren’s syndrome
Objective: This study aimed to characterize the pattern of ataxia in Sjogren’s syndrome and also to describe cerebellar ataxia and cerebellar atrophy in some of…The Phenotypical Presentation of SCA8 in Taiwan
Objective: We described the clinical features and phenotypic presentation of 40 patients who was diagnosed with spinocerebellar ataxia type 8 (SCA8) in a single tertiary…Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease
Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…Speech biometrics can predict cerebellar dysfunction in multiple sclerosis
Objective: To objectively describe cerebellar mediated speech function using a multiparameter index that reflects pathology and quality of life in MS. Background: Cerebellar function plays…The genetic study of autosomal dominant spinocerebellar ataxia in Kazakhstan
Objective: To perform the genetic study of autosomal dominant spinocerebellar ataxia (ADSCA) cases from Kazakhstan. Background: Spinocerebellar ataxias (SCAs) is a large group of hereditary…SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures
Objective: To characterize seizures in a patient with SYNGAP1 mutation and the efficacy of antiepileptic drugs (AEDs). Background: SYNGAP1-related intellectual disability is characterized by developmental…
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