Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders.
Neurol Neurochir Pol
PMID:Spinocerebellar ataxia 15: A phenotypic review and expansion. 2790 16

Congenital cataracts are lens opacities that are already present at birth or are developing in the first years of life. Treatment consists of the surgical removal of the lens. Bilateral cataract deeply impairs vision, preventing the development of physiological reflex fixation and causes the development of nystagmus about 3 months of age. This nystagmus persists even after the surgical removal of cataracts without allowing often >0,1 visual acuity despite adequate aperture correction. Intraocular lens implants in children under the age of 1 are subject to discussion. Presents the patient's current visual acuity, in which an artificial intraocular lens was not implanted after a congenital cataract removal, retinal detachment, high myopia, glaucoma and persistent nystagmus. The whole treatment and adaptation mechanisms of the patient allowed to obtain surprising visual acuity for near vision without additional eyeglass correction.
Pol Merkur Lekarski 2018 Jun 27
PMID:[Assessment of visual acuity in aphakia patient after bilateral cataract removal]. 3005 97


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