Multiple forms of autosomal ataxia exist which can be identified by genetic testing. Due to their wide variety, the identification of the appropriate genetic test is difficult but could be aided by magnetic resonance data. In this study, magnetic resonance spectroscopy (MRS) and imaging (MRI) data were recorded for 20 ataxia patients of six different types and compared to 20 normal subjects. Spectra were acquired in the pons, left frontal lobe, left basal ganglia, left cerebellar hemisphere and vermis. Both metabolite spectra and absolute metabolite concentrations were determined. Differences in metabolite levels were observed between ataxia patients and control subjects and between ataxia patients of different types. A number of correlations were found between metabolite ratios, atrophy levels, number of repeats on the small and large allele, age at examination, symptoms duration and age at symptoms onset for ataxia patients. These MR characteristics are expected to be useful for the identification of the ataxia type.
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http://dx.doi.org/10.1016/j.brainres.2005.05.015 | DOI Listing |
Mov Disord
January 2025
Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.
View Article and Find Full Text PDFActa Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
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.
Prog 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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