A 34-year-old female patient suffering from multiple sclerosis was treated with thalamic electrostimulation for right dominant brachial ataxia and intention tremor. At the end of the fourth year, the energy of the battery of the impulse generator was depleted. However, the patient was able to use her hands without major impairment with the stimulator OFF; due to a stable reduction of the degree of ataxia and intention tremor. The opposite thalamus received an electrode that was never activated because of a permanent thalamotomy effect. Thus, it can be concluded that restoration of function by means of deep brain stimulation might have been beneficial towards achieving a reorganization and stabilization of subcortico-cortical and cerebellar circuitry, supporting the process of self-repair in this patient with a less aggressive course of multiple sclerosis. However, scientific proof has yet to be found. This exceptional observation emphasizes the need for longterm studies.
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http://dx.doi.org/10.1191/1352458504ms1102cr | DOI Listing |
J Vet Diagn Invest
January 2025
Faculty of Agricultural Sciences, National University of Jujuy, Jujuy, Argentina.
Spontaneous intoxication by was diagnosed in a flock of 300 sheep in Jujuy province, northwestern Argentina, that grazed an area heavily invaded by this plant. The main clinical signs were intention tremors, ataxia, and progressive loss of condition. Autopsy of 2 affected animals revealed loss of body condition.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Neurology, the Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, Hunan 410007, China.
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant.
Methods: A retrospective analysis was conducted on the clinical data of a child admitted to Hunan Children's Hospital in June 2024 due to "intermittent convulsions for 13 days". Peripheral blood samples were collected from the child and his parents for whole exome sequencing, followed by Sanger sequencing validation and pathogenicity analysis of candidate variants.
Neurol Sci
December 2024
Memory Clinic, Department of Neurology, Onze-Lieve-Vrouwziekenhuis, Aalst, Belgium.
Background And Objectives: POLR3-related disorders are a group of autosomal recessive neurodegenerative diseases that usually cause leukodystrophy and can lead to cognitive dysfunction. Literature reporting comprehensive neuropsychological assessment in POLR3A-related diseases is sparse. Here we describe the neuropsychological profile of a case of childhood-onset POLR3A-related spastic ataxia without leukodystrophy.
View Article and Find Full Text PDFPak J Med Sci
November 2024
Muhammad Imran Naseer Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Background & Objective: Autosomal recessive cerebellar ataxias (ARCA) are rare heterogenous neurodegenerative disorders characterized by degeneration of the cerebellum and spinal cord with an early onset before the age of 20 years. PMPCA (MIM: 613036), is a key enzyme in mitochondrial protein processing which is critical for cell survival and growth. Our objective was to investigate Peptidase, Mitochondrial Processing Subunit Alpha (PMPCA) mutations linked with Spinocerebellar ataxia, autosomal recessive 2 (SCAR2).
View Article and Find Full Text PDFAnn Neurol
November 2024
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Australia.
Objective: Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed rehabilitation program compared with 30 weeks of standard care on function, ataxia, health-related quality of life, and balance in individuals with an HCA.
Methods: Individuals with an autosomal dominant or recessive ataxia (aged ≥15 years) were enrolled at 5 sites in Australia.
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