Vertical gaze palsy

Progressive supranuclear palsy (PSP) is the most prevalent form of degenerative atypical parkinsonism. Clinical manifestations of PSP commonly encompass deficits in vertical gaze, postural stability, akinesia, and cognitive impairment. The characteristic metabolic pattern observed in PSP through FDG PET displays hypometabolism in the midbrain, striatum, thalamus, and frontal lobe. However, visual interpretation of midbrain hypometabolism poses challenges. In this report, we aim to elucidate a novel observation termed the "loss of Mickey Mouse ears' sign," which signifies midbrain hypometabolism as detected through visual assessment of FDG PET images...

BACKGROUND: The article discusses the investigations into the nucleus of Perlia (NP), a spindle-shaped nucleus located in the dorsal aspect of the oculomotor complex. However, there is still debate over its exact location and function, with conflicting findings in nonhuman primates. Therefore, the current study aimed the describe the location, function, clinical and surgical implications of NP. METHODS: A systematic review was conducted to identify studies related to the following MeSH terms: "perlia nucleus" OR "nucleus of "perlia" OR "convergence nucleus" OR "nucleus of convergence" OR "Perlia's nucleus"...

INTRODUCTION: Although restriction of vertical ocular range of motion is known to be the hallmark of progressive supranuclear palsy (PSP), the maximal amplitude of ocular movement has not been quantitatively assessed despite of accumulating evidences of oculomotor dysfunction in Parkinson's disease (PD). Here, we evaluated the maximal oculomotor range and its response to levodopa in PD, and compare findings to atypical parkinsonism. METHODS: We recruited 159 healthy controls (HC) as well as 154 PD, 30 PSP, and 16 multiple system atrophy (MSA) patients...

No abstract text is available yet for this article.

BACKGROUND AND OBJECTIVES: GM2 gangliosidoses, a group of autosomal-recessive neurodegenerative lysosomal storage disorders, result from β-hexosaminidase (HEX) deficiency with GM2 ganglioside as its main substrate. Historically, GM2 gangliosidoses have been classified into infantile, juvenile, and late-onset forms. With disease-modifying treatment trials now on the horizon, a more fine-grained understanding of the disease course is needed. METHODS: We aimed to map and stratify the clinical course of GM2 gangliosidoses in a multicenter cohort of pediatric and adult patients...

Atypical Parkinsonian syndromes are a subset of progressive neurodegenerative disorders that present with signs of Parkinson's disease. However, due to multisystem degeneration, the atypical Parkinsonian syndromes have additional symptoms that are often referred to as Parkinson-plus syndromes. The most well-studied subsets include progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and Lewy body dementia. Specifically, progressive supranuclear palsy is a tauopathy neurodegenerative disorder that presents with parkinsonism symptoms along with postural instability, vertical saccade, and vertical gaze palsy...

Progressive supranuclear palsy (PSP) is a neurodegenerative condition that typically emerges in adulthood and does not exhibit any familial inheritance pattern. PSP is characterized by gradual stiffness in the central body, an inability to move the gaze upward voluntarily, postural instability, and a decline in cognitive function linked to frontal lobe dysfunction. Clinical assessment reveals a variety of findings, and cases of PSP frequently go unnoticed or are incorrectly diagnosed as other conditions. Notably, prominent neurotransmitter-related changes in PSP involve damage to the dopaminergic nigrostriatal pathway and cholinergic impairment in multiple regions...

POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot-Marie-Tooth syndrome type 1I (CMT1I), has been reported as well. Here we report on an additional patient presenting with developmental delay and generalized epilepsy, followed by the onset of mild pyramidal and cerebellar signs, vertical gaze palsy and subclinical demyelinating polyneuropathy...

Here, we present a case series of four patients diagnosed with acute ischaemic stroke due to occlusion of the artery of Percheron (AOP), a rare stroke variant, observed in a single emergency centre within a three-month period. AOP occlusion is characterized by bilateral thalamic infarction with or without involvement of the mesencephalon. The presenting symptoms are diverse and not specific, but commonly include disturbance of consciousness, memory impairment, and vertical gaze palsy. In addition, due to the location of the infarction, imaging recognition is challenging and AOP occlusion often remains undiagnosed...

PURPOSE: To determine the frequency and manifestations of different ocular causes of abnormal head posture (AHP). METHOD: This prospective, consecutive case series study was performed on 149 patients with ocular AHP at Farabi hospital, Iran, from February 2020 to June 2021. All patients underwent routine ophthalmic examinations. The manifestation of AHP was determined by direct observation from three viewing angles, while the patient read the smallest line on the vision chart that they could see...

OBJECTIVE: Bilateral thalamic infarction due to artery of Percheron (AOP) occlusion is rare (0.01-2% of all ischemic strokes) and neuropsychological sequelae are not well-defined. We present the case of a 50-year-old, right-handed, Caucasian woman, with 12 years of education, who presented with cognitive and behavioral symptoms following AOP stroke. METHOD: Following AOP stroke, the patient experienced seven-day hospitalization and one-month subacute rehabilitation...

Progressive supranuclear palsy-Richardson syndrome (PSP-RS) is a sporadic atypical parkinsonian syndrome with levodopa-unresponsive axial-predominant parkinsonism, early postural instability, vertical supranuclear gaze palsy, dysarthria, executive dysfunction and behavioural changes. PSP-RS can be mimicked by numbers of other disorders, generally known as PSP mimics, or PSP-like syndromes. Their aetiological spectrum includes neurodegenerative (mostly genetic), vascular, infectious and drug-induced illnesses as well as other causes...

We report a patient presenting with unique neuroophthalmological features of contraversive ocular tilt reaction and concomitant contralesional pseudo-abducens palsy. Magnetic resonance imaging confirmed the presence of an acute infarct in the right thalamomesencephalic region. We discuss the clinical topography of these unique neuroophthalmological findings.

Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our laboratory were analyzed. Patients' clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype-phenotype analysis was performed...

BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute liver failure and sometimes need liver transplantation (LT), and 7% reportedly develop inflammatory bowel disease (IBD). We report the case of a girl with NPC who had a re- accumulation of cholesterol in the transplanted liver and NPC-related IBD. CASE REPORT: The patient underwent living donor liver transplantation (LDLT) due to severe acute liver failure caused by an unknown etiology inherited from her father...

Eyes provide valuable information for neurological diagnosis. So far, the use of diagnostic devices to analyze eye movement is limited. We explored whether the analysis of eye movements can be efficacious. Patients with Parkinson's disease (PD) (n = 29), spinocerebellar degeneration (SCD) (21), progressive supranuclear palsy (PSP) (19), and control individuals (19) participated in this study. The patients read aloud two sets of sentences displayed on a monitor: one was displayed horizontally, and the other vertically...

BACKGROUND: Inferior oblique anterior transposition (IOAT) has emerged as an effective surgery in the management of dissociated vertical deviation (DVD) combined with superior oblique palsy (SOP). Traditional IOAT usually provides satisfactory primary position alignment and simultaneously restricts the superior floating phenomenon. However, it also increases the risk of the anti-elevation syndrome and narrowing of the palpebral fissure in straight-ahead gaze, especially after the unilateral operation...

BACKGROUND: Diseases presenting with only downward gaze palsy are extremely rare particular in cerebral hemorrhage. CASE DESCRIPTION: A 63-year-old man with no medical history developed a downward-dominant vertical gaze paralysis with a convergence disorder. Computed tomography and magnetic resonance imaging showed a small hemorrhage of 13 mm in diameter in the right midbrain tegmental area. The patient was conservatively treated. His symptoms showed a gradual improvement from upward gaze paralysis and convergence disorder followed by downward gaze paralysis...

BACKGROUND: Paralytic ectropion increases risk for corneal injury in facial palsy patients. While a lateral tarsal strip (LTS) provides corneal coverage through supero-lateral lower eyelid pull, the unopposed lateral force may result in lateral displacement of the lower eyelid punctum and overall worsening asymmetry. A tensor fascia lata (TFL) lower eyelid sling may overcome some of these limitations. This study quantitatively compares scleral show, punctum deviation, lower marginal reflex distance (MRD), and peri-orbital symmetry between the two techniques...

No abstract text is available yet for this article.