Levodopa-induced ocular dyskinesias are very uncommon. Usually they occur simultaneously with limb peak-dose choreatic dyskinesias. We report on a patient with leftward and upward deviations of gaze during the peak effect of levodopa, and hypothesize that a severe dopaminergic denervation in the caudate nucleus is needed for the appearance of these levodopa-induce ocular dyskinesias.
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http://dx.doi.org/10.1002/mds.10017 | DOI Listing |
Tremor 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.
Cerebellum
December 2024
NeuroMetrology Lab, Nuffield Department of Clinical Neurosciences, Clinical Neurology, Medical Sciences Division, University of Oxford, Oxford, OX3 9DU, UK.
Whereas several studies have reported on quantitative oculomotor and vestibular measurements in spinocerebellar ataxia type 6 (SCA6), selecting the most suitable paradigms remains challenging. We aimed to address this knowledge gap through a systematic literature review and providing disease-specific recommendations for a tailored set of eye-movement recordings in SCA6. A literature search (MEDLINE, Embase) was performed focusing on studies reporting on quantitative oculomotor and/or vestibular measurements in SCA6-patients.
View Article and Find Full Text PDFJ Neurol
December 2024
Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Background: Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).
Objectives: To pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.
Mol Genet Genomic Med
November 2024
Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
Background: Heterozygous variants of sequestosome-1 gene (SQSTM1) have been reported in patients with various neurological disorders, whereas biallelic pathogenic variants of SQSTM1 can cause child-onset and multisystem neurodegeneration, including cerebellar ataxia, dystonia, and vertical gaze palsy (NADGP). Here, we describe two cases of NADGP in a Japanese family.
Methods: We performed clinical and genetic laboratory evaluations of the two patients and their healthy parents.
Neurology
December 2024
From the Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
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