Results 21 to 30 of about 17,258 (175)
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
Characteristics and mechanisms of periodic alternating nystagmus
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Periodic alternating nystagmus (PAN) is a rare, congenital or acquired spontaneous nystagmus. Understanding the characteristics and mechanism of different types of PAN contributes to the recognition of this disease and the level of diagnosis and ...
Fei LI, Gang-gang CHEN
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Eletronistagmografia versus videonistagmografia Electronystagmography versus videonystagmography
Brazilian Journal of Otorhinolaryngology, 2010 A eletronistagmografia (ENG) e a videonistagmografia (VNG) são métodos de registro dos movimentos oculares, empregados na avaliação dos distúrbios do equilíbrio corporal.
Maurício Malavasi Ganança +2 more
doaj +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Nistagmus Downbeat Nystagmus Due to Oxcarbazepine Intoxication
Türk Nöroloji Dergisi, 2009 Downbeat nystagmus is associated primarily with structural lesions of the central nervous system and may be observed as a manifestation of drug intoxication.
Gül Yalçın Çakmaklı +1 more
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Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.10 ...
Jia⁃lüe HUA
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Pathological and non-pathological irregularities of nystagmus.
Collegium antropologicum, 2014 Irregularities of nystagmus can be found almost in every electronystagmographic record, but only a few are pathological. In this investigation, the authors try to define the border line between pathological and nonpathological irregularities of nystagmus and according to this measure the diagnostic use of findings of irregularities of nystagmus.
Starčević, Radan +2 more
openaire +5 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source
Bulbar infarction with upbeat nystagmus as the main sign: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI:10.3969/j.issn.1672⁃6731.2020.11 ...
Lei ZHAO +5 more
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