Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease.
Thirty-eight PCI patients and 31 patients with unilateral vestibular neuritis (UVN) were enrolled and underwent eye movement tests and vestibular function tests (spontaneous nystagmus [SN], head-shaking nystagmus [HSN]).
Both P12 and N23 EPs were modulated by the mode of visual stimulation, larger for vection (sense of movement) compared with optokinetic nystagmus and for congruent movement.
Both P12 and N23 EPs were modulated by the mode of visual stimulation, larger for vection (sense of movement) compared with optokinetic nystagmus and for congruent movement.
Both P12 and N23 EPs were modulated by the mode of visual stimulation, larger for vection (sense of movement) compared with optokinetic nystagmus and for congruent movement.
SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years.
A 30 s observation of geotropic positional nystagmus is sufficient to distinguish persistent geotropic positional nystagmus (PGPN) from transient geotropic positional nystagmus (TGPN) in patients with horizontal canal type of benign paroxysmal positional vertigo (H-BPPV) in ENT office.
We propose that RNF138 plays a critical role in the homeostatic regulation of Ca<sub>V</sub>2.1 protein level and functional expression and that RNF138 serves as the primary E3 ubiquitin ligase promoting EA2-associated aberrant degradation of human Ca<sub>V</sub>2.1 subunits.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the human Ca<sub>V</sub>2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of ataxia and nystagmus.
We propose that RNF138 plays a critical role in the homeostatic regulation of Ca<sub>V</sub>2.1 protein level and functional expression and that RNF138 serves as the primary E3 ubiquitin ligase promoting EA2-associated aberrant degradation of human Ca<sub>V</sub>2.1 subunits.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the human Ca<sub>V</sub>2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of ataxia and nystagmus.
We propose that RNF138 plays a critical role in the homeostatic regulation of Ca<sub>V</sub>2.1 protein level and functional expression and that RNF138 serves as the primary E3 ubiquitin ligase promoting EA2-associated aberrant degradation of human Ca<sub>V</sub>2.1 subunits.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the human Ca<sub>V</sub>2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of ataxia and nystagmus.
We propose that RNF138 plays a critical role in the homeostatic regulation of Ca<sub>V</sub>2.1 protein level and functional expression and that RNF138 serves as the primary E3 ubiquitin ligase promoting EA2-associated aberrant degradation of human Ca<sub>V</sub>2.1 subunits.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the human Ca<sub>V</sub>2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of ataxia and nystagmus.
The initial symptoms of six SCA3 cases were all spasticity in the lower limbs, and nystagmus, dysphagia and dysarthria that occurred with disease progression seemed more frequent than HSP.
A patient who developed nystagmus at 16 months and progressive spastic ataxia at 18 months was found to have a 19-base pair (bp) deletion of a G-rich region near the 5' end of intron 3 of the PLP gene.
A patient who developed nystagmus at 16 months and progressive spastic ataxia at 18 months was found to have a 19-base pair (bp) deletion of a G-rich region near the 5' end of intron 3 of the PLP gene.
A patient who developed nystagmus at 16 months and progressive spastic ataxia at 18 months was found to have a 19-base pair (bp) deletion of a G-rich region near the 5' end of intron 3 of the PLP gene.