Infantile-onset saccade initiation delay (ISID), commonly known as congenital ocular motor apraxia, is characterized by difficulty in triggering horizontal volitional saccades. It typically presents with head thrusts in infancy and is often associated with developmental delay. Patients with ISID are reported to have abnormalities in various brain regions including the corpus callosum, brainstem, and cerebellum. We propose that ISID is caused by the disruption or disconnection of axons linking analogous brain regions involved in processing saccades across the two sides of the brain or bilateral damage to these regions.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1017/s031716710005143x | DOI Listing |
Can J Neurol Sci
March 2024
Section of Pediatric Radiology, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Orphanet J Rare Dis
September 2020
International Institute for Integrative Sleep Medicine (IIIS), University of Tsukuba, Tsukuba, 305-8575, Japan.
Study Objectives: Niemann-Pick type C (NPC) is an autosomal recessive and congenital neurological disorder characterized by the accumulation of cholesterol and glycosphingolipids. Symptoms include hepatosplenomegaly, vertical supranuclear saccadic palsy, ataxia, dystonia, and dementia. Some cases frequently display narcolepsy-like symptoms, including cataplexy which was reported in 26% of all NPC patients and was more often recorded among late-infantile onset (50%) and juvenile onset (38%) patients.
View Article and Find Full Text PDFGenet Mol Biol
August 2020
Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud - CUCS, Instituto de Genética Humana "Enrique Corona Rivera", Jalisco, Mexico.
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky.
View Article and Find Full Text PDFJ Neurol
July 2020
Department of Neurology, Ludwig-Maximilians University München, Marchioninistr. 15, 81377, Munich, Germany.
Objective: Niemann-Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC.
View Article and Find Full Text PDFBrain Dev
August 2019
Department of Pediatrics, Tokyo Medical and Dental University, Japan; Kawasaki North Center for Childhood Developmental Disorder, Japan.
Background: Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!