Journal ArticleDOI
Ocular Motor Signs in Some Metabolic Diseases
TLDR
Ocular motor disturbances are described with a miscellany of metabolic disturbances and what is generally considered a variant of Niemann-Pick disease, or sea-blue histiocytosis, but which the authors prefer to call the "DAF" syndrome.Abstract:
• Ocular motor disturbances are described with a miscellany of metabolic disturbances. Horizontal gaze abnormalities, often simulating congenital ocular motor apraxia, characterized Gaucher's disease. Vertical gaze abnormalities, especially downgaze paralysis, characterized what is generally considered a variant of Niemann-Pick disease, or sea-blue histiocytosis, but which we prefer to call the "DAF" syndrome. A form of internuclear ophthalmoplegia but with nystagmus of the adducting eye characterized abetalipoproteinemia. Epileptiform eyelid and eye movements occurred in a case of methylmalonohomocystinuria. Ocular motor abnormalities are also described with variation of olivopontocerebellar degeneration and with ataxia telangiectaread more
Citations
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Journal ArticleDOI
Clinical spectrum of Niemann‐Pick disease type C
John K. Fink,M. R. Filling-Katz,J. Sokol,D. G. Cogan,A. Pikus,Barbara C. Sonies,Bing-Wen Soong,Peter G. Pentchev,M E Comly,Roscoe O. Brady,Norman W. Barton +10 more
TL;DR: Analysis of the neurologic symptomatology in 22 patients with Niemann-Pick disease type C revealed 3 phenotypes: an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later associated with dementia and, variably, seizures and extrapyramidal deficits.
Journal ArticleDOI
Type 2 Gaucher disease: 15 new cases and review of the literature.
TL;DR: Type 2 Gaucher disease is a clinically homogeneous entity and the specificity of the neurological involvement is sufficient to suspect the diagnosis at the onset of the disease.
Journal ArticleDOI
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease
M. C. Patterson,Mia Horowitz,R. B. Abel,J. N. Currie,K-T. Yu,Christine R. Kaneski,J. J. Higgins,R. R. O'Neill,P. Fedio,A. Pikus,Roscoe O. Brady,Norman W. Barton +11 more
TL;DR: Early diagnosis and timely enzyme replacement therapy promise to improve the prognosis in GD3b, and patients homoallelic for the mutation causing substitution of leucine for proline at position 444 had severe systemic disease; neurologic signs were frequently, but not invariably, present.
Journal ArticleDOI
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Joseph K. Park,Eduard Orvisky,Nahid Tayebi,Christine R. Kaneski,Mary E. LaMarca,Barbara K. Stubblefield,Brian M. Martin,Raphael Schiffmann,Ellen Sidransky +8 more
TL;DR: Although there were certain shared mutant alleles found in these patients, both the lack of a shared genotype and the variability in clinical presentations suggest that other modifiers must contribute to this rare phenotype.
Journal ArticleDOI
White matter volume changes in people who develop psychosis
Mark Walterfang,Philip McGuire,Alison R. Yung,Lisa J. Phillips,Dennis Velakoulis,Stephen J. Wood,John Suckling,Edward T. Bullmore,Warrick J. Brewer,Bridget Soulsby,Patricia Desmond,Patrick D. McGorry,Christos Pantelis +12 more
TL;DR: In this article, the authors used MRI to assess whether there were white matter abnormalities in people at ultra-high risk of psychosis and whether these were associated with the subsequent development of psychosis.
References
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Journal ArticleDOI
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Journal ArticleDOI
Slow saccades in spinocerebellar degeneration.
TL;DR: A neural network was hypothesized that made saccades by driving the eyes to an orbital position rather than preprogramming a distance for movement, and computer simulation of this model produced both realistically appearing normal saccade and, when appropriately "lesioned" to simulate a loss of saccadic "burst" neurons in the pontine reticular formation, slow saccading that could be modified in flight.
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Extreme insulin resistance in ataxia telangiectasia: defect in affinity of insulin receptors.
Robert S. Bar,W R Levis,Matthew M. Rechler,Len C. Harrison,Carolyn Siebert,Judith M. Podskalny,Jesse Roth,Michele Muggeo +7 more
TL;DR: The insulin resistance in the two siblings with ataxia telangiectasia was associated with defects in the affinity of the receptors for insulin, probably caused by circulating inhibitors of insulin binding.