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Isolated Foot Drop Due to a Cerebral Infarction Mimicking Lumbar Radiculopathy: A Case Report and Literature Review.
Cureus
January 2025
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
Isolated foot drop is a neurological sign frequently linked to lower motor neuron (LMN) lesions, including peroneal nerve damage or L4-L5 radiculopathy. Nonetheless, upper motor neuron (UMN) lesions, such as strokes or tumors located in the parasagittal motor cortex, may sometimes manifest as isolated foot drops. The main causes of isolated foot drop secondary to central etiologies are uncommon, with few instances documented in the literature.
View Article and Find Full Text PDFA Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Cerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
View Article and Find Full Text PDFBiallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Hum Genet
November 2024
APHP Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, ERN-ITHACA, 47-83 Boulevard de l'hôpital, 75013, Paris, France.
Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral sclerosis. However, only 12 individuals from five pedigrees have been identified so far. Thus, the description of the disease remains limited.
View Article and Find Full Text PDFAssociation of contrast-enhanced MRI of inner ear and caloric response in patients with clinically diagnosed ipsilateral delayed endolymphatic hydrops.
Acta Otolaryngol
October 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
Background: Patients with delayed endolymphatic hydrops (DEH) often show caloric hypofunction and endolymphatic hydrops (ELH) on gadolinium (Gd) enhanced magnetic resonance imaging (MRI) of the inner ear.
Objectives: We aimed to investigate the relationship between the ELH and caloric results in ipsilateral DEH.
Material And Methods: Twelve patients with ipsilateral DEH were included, who underwent delayed MRI following intratympanic Gd application, pure-tone audiometry, caloric test, and video head impulse test (vHIT).
A Cross-Sectional Study of Clinical Spectrum and Outcome of Pure Midbrain Strokes.
Neurol India
July 2024
Department of Neurology, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, Kerala, India.
Background: Pure mesencephalic infarcts are uncommon, the main clinical manifestations being oculomotor signs and ataxia.
Objectives: Primary objective was to determine the incidence of pure midbrain strokes. We also evaluated the clinical spectrum, syndromes, arterial territories involved, risk factors, and outcome at 3 months.
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