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http://dx.doi.org/10.4103/0028-3886.391362 | DOI Listing |
Clin Biochem
October 2024
University of Pittsburgh Medical Center, Department of Pathology, Pittsburgh, PA, USA; University of Pittsburgh, School of Medicine, Department of Pathology, Pittsburgh, PA, USA. Electronic address:
Cureus
February 2024
Neurology, Carle Illinois College of Medicine, Urbana, USA.
Recurrent painful ophthalmoplegic neuropathy (RPON), previously known as ophthalmoplegic migraine, is a disorder typically characterized by recurrent episodes of unilateral headache concurrent with ipsilateral ocular cranial nerve paresis which primarily affects children. Diagnosis is mostly one of exclusion, based on clinical symptoms, supplemented by imaging for enhanced or distorted oculomotor nerves. We present a case of RPON in a 24-year-old adult female with unique features of unilateral left headache with ipsilateral pupillary dilation spreading to bilateral dilation and no MRI findings of oculomotor nerve enhancement.
View Article and Find Full Text PDFBrain
October 2024
Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, VU University Amsterdam, Amsterdam 1081 HV, The Netherlands.
Leukodystrophies are rare genetic white matter disorders that have been regarded as mainly occurring in childhood. This perception has been altered in recent years, as a growing number of leukodystrophies have been described as having an onset in adulthood. Still, many adult patients presenting with white matter changes remain without a specific molecular diagnosis.
View Article and Find Full Text PDFNeurol India
January 2024
Department of Neurology, Apollo Gleneagles Hospital, Chennai, Tamil Nadu, India.
J Clin Med
June 2023
Department of Neurology, North Karelia Central Hospital, Siun Sote, 80210 Joensuu, Finland.
Finland is a relatively small genetic isolate with a genetically non-homogenous population. Available Finnish data on neuroepidemiology of adult-onset disorders are limited, and this paper describes the conclusions that can be drawn and their implications. Apparently, Finnish people have a (relatively) high risk of developing Unverricht-Lundborg disease (EPM1), Multiple Sclerosis (MS), Amyotrophic Lateral Sclerosis (ALS), Spinal muscular atrophy, Jokela type (SMAJ) and adult-onset dystonia.
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