Bucco-facial dyskinesia is particularly frequent in aged persons, for whom the condition is a definite handicap because of its social and, sometimes, functional impact. The etiology of these abnormal movements is variable. On one hand, many treatments can be incriminated, especially neuroleptics, and on the other hand, there also are frequent spontaneous dyskinesias, movements for which the risk factors are described. The physiopathology remains open to discussion and research, but we already know that the regulation of the nigro-striated pathway plays a role in it, as well, maybe, as toxic (free radicals) and immunological factors. Various therapies are described, but the outcome for such dyskinesias is often unfavorable, at least in elderly subjects, hence the merits of prevention. The latter is based on the prescription of as few neuroleptic drugs as possible, on the use of possibly protective substances, and finally on the suppression on the triggering elements that some local factors may form.
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BMJ Case Rep
January 2025
Institute of Neurological Sciences, Prince of Wales Hospital and the University of New South Wales, Randwick, Sydney, New South Wales, Australia
Acute cerebellar ataxia is a clinical syndrome that involves loss of balance and coordination, typically within less than 72 hours. It usually presents in children and rarely affect adults. A woman in her early 20s presented with acute onset dizziness, vertigo, truncal ataxia and dysarthria 2 weeks following an acute viral illness.
View Article and Find Full Text PDFCerebellum
January 2025
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Deep brain stimulation (DBS) for essential tremor is remarkably effective, leading to over 80% reduction in standardized tremor ratings. However, for certain types of tremor, such as those accompanied by ataxia or dystonia, conventional DBS targets have shown poor efficacy. Various rationales for using cerebellar DBS stimulation to treat tremor have been advanced, but the varied approaches leave many questions unanswered: which anatomic target, stimulation settings, and indications seem most promising for this emerging approach.
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January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Methods Cell Biol
January 2025
State University of Minas Gerais, Department of Biomedical Sciences and Health, Passos, MG, Brazil. Electronic address:
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by a repeat of the cytosine-adenine-guanine trinucleotide (CAG) in the huntingtin gene (HTT). This results in the translation of a mutant huntingtin (mHTT) protein with an abnormally long polyglutamine (polyQ) repeat. The pathology of HD leads to neuronal cell loss, motor abnormalities, and dementia.
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January 2025
School of Computer Science, University of Birmingham, Birmingham B15 2TT, UK.
Objective and continuous monitoring of Parkinson's disease (PD) tremor in free-living conditions could benefit both individual patient care and clinical trials, by overcoming the snapshot nature of clinical assessments. To enable robust detection of tremor in the context of limited amounts of labeled training data, we propose to use prototypical networks, which can embed domain expertise about the heterogeneous tremor and non-tremor sub-classes. We evaluated our approach using data from the Parkinson@Home Validation study, including 8 PD patients with tremor, 16 PD patients without tremor, and 24 age-matched controls.
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