Acetyl-DL-leucine is a modified amino acid that was observed to improve ataxic symptoms in patients with sporadic and hereditary forms of ataxia. Here, we investigated the effect of the treatment with Acetyl-DL-leucine on the walking stability of patients with cerebellar ataxia (10x SAOA, 2x MSA-C, 2x ADA, 1x CACNA-1A mutation, 2x SCA 2, 1x SCA 1). Treatment with Acetyl-DL-leucine (500 mg; 3-3-4) significantly improved the coefficient of variation of stride time in 14 out of 18 patients. Moreover, subjective ambulatory scores (FES-I and ABC) and the SARA scores were also improved under treatment. Further prospective studies are necessary to support these class III observational findings.
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http://dx.doi.org/10.1186/s40673-016-0046-2 | DOI Listing |
Brain Res Bull
January 2025
Department of Acupuncture and Moxibustion, The Fourth Clinical Medical College of Guangzhou University of Chinese Medicine, Shenzhen, 518033, China. Electronic address:
Background: Subcortical vascular mild cognitive impairment (svMCI) frequently occurs alongside depressive symptoms, significantly affecting patients' quality of life. While cognitive decline and depressive symptoms are linked to cerebellar changes, the specific relationship between these changes and cognitive status in svMCI patients with depression remains unclear.
Objective: This study aimed to investigates the gray matter volume and functional alterations in the cerebellum of svMCI patients, with and without depressive symptoms, and their correlation with cognitive and depressive symptoms.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology, Mayo Clinic, Rochester, MN.
Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).
Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.
Am J Transl Res
December 2024
Department of Orthopaedics, Beilun District People's Hospital, Beilun Branch of The First Affiliated Hospital, Zhejiang University Ningbo, Zhejiang, China.
The pathogenesis of type I Chiari malformation (CIM) is complex and remains unclear. The theory of posterior cranial fossa incompatibility has gained widespread acceptance in recent years. In the patients with CIM combined with syringomyelia, scoliosis is a common occurrence, with severe cases often leading to complications that necessitate surgical intervention.
View Article and Find Full Text PDFProg Rehabil Med
January 2025
Department of Rehabilitation Medicine, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Objectives: Trunk control involves multiple brain regions related to motor control systems. Therefore, patients with central nervous system (CNS) disorders frequently exhibit impaired trunk control, decreasing their activities of daily living (ADL). Although some therapeutic interventions for trunk impairments have been effective, their general effects on CNS disorders remain unclear.
View Article and Find Full Text PDFArch Rehabil Res Clin Transl
December 2024
Section of Neurorehabilitation, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance.
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