scholarly journals Ocular motor apraxia, Cogan type

2020 ◽  
Author(s):  
Keyword(s):  
Ocular Motor ◽  
Motor Apraxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia

2021 ◽  
pp. 108776
Author(s):  
Tamaki Kato ◽  
Yoshiteru Tamura ◽  
Hiroshi Matsumoto ◽  
Osamu Kobayashi ◽  
Hideaki Ishiguro ◽  
...  
Keyword(s):  
Early Onset ◽  
Ocular Motor ◽  
Early Onset Ataxia ◽  
Motor Apraxia ◽  
Immunological Abnormalities

Congenital Ocular Motor Apraxia

2015 ◽  
pp. 1-2
Author(s):  
Jeff Falco ◽  
Sumayya J. Almarzouqi ◽  
Andrew G. Lee
Keyword(s):  
Ocular Motor ◽  
Motor Apraxia ◽  
Congenital Ocular Motor Apraxia

Disorders of Ocular Motility with Disease Affecting the Basal Ganglia, Cerebral Cortex, and in Systemic Conditions

2015 ◽  
pp. 916-1024
Author(s):  
R. John Leigh ◽  
David S. Zee
Keyword(s):  
Eye Movements ◽  
Basal Ganglia ◽  
Bipolar Affective Disorder ◽  
Ocular Motility ◽  
Ocular Motor ◽  
Psychiatric Illnesses ◽  
Tay Sachs Disease ◽  
Motor Apraxia ◽  
Niemann Pick ◽  
Eye Movement Disorders

This chapter reviews (with illustrative videos) disorders of gaze in diseases involving the basal ganglia, including Parkinson’s disease, progressive supranuclear palsy (PSP), hyperkinetic movement syndromes such as oculogyric crisis, and Huntington’s disease. Ocular motor syndromes caused by lesions in the cerebral hemispheres are discussed, including gaze deviations. Distinctive features of ocular motor apraxia, both acquired and congenital, are highlighted. Eye movements during epilepsy, and abnormal eye movements in patients with dementia, including Alzheimer’s disease, frontotemporal dementia, and amyotrophic lateral sclerosis are reviewed. Eye movement disorders in psychiatric illnesses, including schizophrenia, bipolar affective disorder, and autism are summarized. Eye movements in stupor and coma are discussed. The range of ocular motor disturbances in multiple sclerosis (MS) is reviewed as well as the ocular motor manifestations of metabolic and deficiency disorders, including Niemann-Pick disease, Tay-Sachs disease, Gaucher’s disease, and Wernicke’s encephalopathy. Disorders of eye movements induced by drugs or toxins are tabulated.

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