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…Clinical Progression and Biomarkers in Spinocerebellar Ataxia Type 31, A Form Unique to and Common in Japanese.
Objective: The objective of this study is to find a useful clinical marker that reflect progression of spinocerebellar ataxia type 31 (SCA31). Background: SCA31 is…Response Inhibition and Cortical Excitability in selected SCA subtypes in an Indian Cohort
Objective: This study examined response inhibition deficits using the Stop-Signal Reaction Time (SSRT) paradigm in different Spinocerebellar Ataxia (SCA) subtypes and explored cortical involvement through…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…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…
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