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This report reviews 13 cases in which a dysarthria appeared, remitted, and reappeared within seconds. The speech pattern of each case was characteristic of ataxic dysarthria. A cinefluorographic film for one of the subjects provided a rare opportunity to study the articulatory dynamics of this disorder. Multiple sclerosis either was given as a diagnosis or was strongly suspected in each case, and carbamazepine has been an effective treatment. Speculations concerning the origin of the paroxysmal and ataxic character of the dysarthria are presented along with a preliminary checklist for identifying the disorder.
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http://dx.doi.org/10.1044/jshd.4101.93 | DOI Listing |
Eur J Med Genet
February 2024
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.
Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years.
Neurol Genet
October 2022
IRCCS Istituto delle Scienze Neurologiche di Bologna (F.P., C.L.M., C.F., L.C., M.L.V., V.C.), Programma di Neurogenetica, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (C.L.M., V.D., R.L.), UOC Clinica Neurologica, Italy; and Department of Biomedical and NeuroMotor Sciences (DIBINEM) (M.L.V., R.L., V.C.), University of Bologna, Italy.
Background And Objectives: To date, approximately 20 heterozygous mainly loss-of-function variants in have been associated with spinocerebellar ataxia (SCA) type 19 and 22, a clinically heterogeneous group of neurodegenerative disorders. We aimed at reporting the second patients with the V374A mutation from an independent family, confirming its pathogenic role.
Methods: We describe the clinical history of a patient with SCA and conducted genetic investigations including mitochondrial DNA analysis and exome sequencing.
Paroxysmal dysarthria and ataxia (PDA) is a rare neurological manifestation of stereotyped attacks of sudden ataxic symptoms lasts for few seconds to minutes. We report a case of PDA in a 61-year-old male with a solitary homogenously enhancing solitary midbrain lesion and positive HLA-B51 (Allele 2), controlled with lacosamide.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
September 2020
University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Purpose: Traumatic brain injury is the leading cause of mortality and disability among young individuals. Unfortunately, there are few publications concerning long term follow up of patients with these types of injuries. We present a case of trans-orbital penetrating brain injury with an 18 year follow up.
View Article and Find Full Text PDF3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity.
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