Effects of an Intensive Multidisciplinary Rehabilitation Program on Patients with Spinocerebellar Ataxia
Objective: To evaluate the effectiveness of an intensive multidisciplinary rehabilitation program in patients with spinocerebellar ataxia. Background: Spinocerebellar ataxias (SCAs) cause significant motor impairment, affecting…Spinocerebellar Ataxia 17 Presenting with Childhood Seizures and Mesial Temporal Lobe Sclerosis
Objective: To report an unusual phenotype of spinocerebellar ataxia 17 (SCA17) with childhood onset epilepsy evolving into asymmetric motor impairment with features of dystonia and…Effects of transcutaneous periodic vibratory stimulation on gait and balance function in Spinocerebellar degeneration -a pilot study
Objective: The aim of this study is to clarify the efficacy of transcutaneous periodic vibrational stimulation(TPVS）on gait and balance function in patients with spinocerebellar degeneration…Compound Heterozygous SCA17 in a Vietnamese Patient
Objective: We seek to report the first instance of Spinocerebellar Ataxia Type 17 (SCA17) in a Vietnamese patient with a compound heterozygous mutation in the…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…Spinocerebellar Ataxia 15: The first reported case of SCA15 in Asia secondary to ITPR1 gene mutation
Objective: The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a family with SCA. Background: Spinocerebellar Ataxia (SCA)…Cardiac Autonomic Dysfunction in Patients with Multiple System Atrophy and Spinocerebellar Ataxia: A Comparative Study and Distinctive Machine Learning Model
Objective: To assess the differences of HRV parameters between MSA-C and SCA and their age-matched normal controls and also to use the supervised ML to…Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)
Objective: The aim of our work is to create a novel protocol for manual subsegmentation of the human brainstem for creating accurate brainstem labels for…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…
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