Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses
نویسندگان
چکیده
Background: Neuronal Ceroid Lipofuscinoses (NCL) is a neurodegenerative condition of lysosomal metabolism due to accumulation lipofuscin in neurons. The predominant symptoms are motor and cognitive regression, seizures, ataxia retinopathy. Speech-language disorders such as dysarthria, aphasia dysphagia have been reported.
منابع مشابه
The neuronal ceroid-lipofuscinoses.
The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of neurodegenerative diseases in childhood and usually show an autosomal recessive mode of inheritance. Despite varying ages of onset and clinical course characterized in most instances by progressive mental and motor deterioration, blindness, epileptic seizures, and premature death, all forms of NCL show un...
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The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid lipofuscin, in combination with the degenera...
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OBJECTIVE Cricopharyngeal myotomy as an independent procedure has been performed on fourteen patients with a variety of neuromuscular disorders, suffering from neurogenic oropharyngeal dysphagia in the interval between 1994-1997. All of them were referred from a neurophysician or physiatrist after failure of improvement by medical treatment. METHODS The selection of patients for operation was...
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The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders. Despite the identification of many of the disease-causing genes, very little is known about the underlying disease mechanisms. However, now that we have mouse or large-animal models for most forms of NCL, we can investigate pathogenesis and compare what happens...
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774456