Ataxia is one of the most common pediatric movement disorders and can be caused by a large number of congenital and acquired diseases affecting the cerebellum or the vestibular or sensory system. It is mainly characterized by gait abnormalities, dysmetria, intention tremor, dysdiadochokinesia, dysarthria, and nystagmus. In young children, ataxia may manifest as the inability or refusal to walk. The diagnostic approach begins with a careful clinical history including the temporal evolution of ataxia and the inquiry of additional symptoms, is followed by a meticulous physical examination, and, depending on the results, is complemented by laboratory assays, electroencephalography, nerve conduction velocity, lumbar puncture, toxicology screening, genetic testing, and neuroimaging. Neuroimaging plays a pivotal role in either providing the final diagnosis, narrowing the differential diagnosis, or planning targeted further workup. In this review, we will focus on the most common form of ataxia in childhood, cerebellar ataxia (CA). We will discuss and summarize the neuroimaging findings of either the most common or the most important causes of CA in childhood or present causes of pediatric CA with pathognomonic findings on MRI. The various pediatric CAs will be categorized and presented according to (a) the cause of ataxia (acquired/disruptive vs. inherited/genetic) and (b) the temporal evolution of symptoms (acute/subacute, chronic, progressive, nonprogressive, and recurrent). In addition, several illustrative cases with their key imaging findings will be presented.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/jon.13017 | DOI Listing |
STAR Protoc
January 2025
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Initiative for Columbia Ataxia and Tremor, Columbia University, New York, NY 10032, USA. Electronic address:
As Purkinje cells of the cerebellum have a very fast firing rate, techniques with high temporal resolution are required to capture cerebellar physiology. Here, we present a protocol to record physiological signals in humans using cerebellar electroencephalography (cEEG). We describe steps for electrode placement and recording.
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.
View Article and Find Full Text PDFBackground: Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the gene encoding NHE6 are responsible for CS, and we recently demonstrated that a mutation to the rat gene causes a similar phenotype in the spontaneous rat model, which exhibits cerebellar degeneration with motor dysfunction. In previous work, we used the PhP.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
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.
Front Neurol
January 2025
Department of Rehabilitation, Maruki Memorial Medical and Social Welfare Center, Saitama, Japan.
Background: Evidence of the effectiveness of physiotherapy, including muscle strength training, coordination training, aerobic exercise, cycling regimen, balance training, gait training, and activity of daily living training, in patients with degenerative cerebellar ataxia (DCA) was insufficient for clinical decision making. We aimed to explore clinical outcomes and examine the parameters associated with physical impairment and activity in people with DCA based on preregistration (PROSPERO: CRD42024493883).
Methods: The PubMed, Cochrane Library, CHINAL, and PEDro databases were searched for relevant randomized controlled trials (RCTs).
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!