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Kearns-Sayre patients are consistently found to have cerebral folate deficiency, a syndrome in which 5-MTHF levels are decreased in the cerebrospinal fluid despite being normal in serum. [5] Treatment with folinic acid can in some cases alleviate the associated symptoms and partially correct associated brain abnormalities, especially if started ...
In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns–Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.
Kearns–Sayre syndrome; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Myoclonic epilepsy with ragged red fibers (MERRF) Cytochrome c oxidase (COX) deficiency; Mitochondrial complex I deficiency; Mitochondrial complex II deficiency; Mitochondrial complex III deficiency (cytochrome b deficiency) mtDNA deletion
Kearns–Sayre syndrome (KSS) (Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; oculocraniosomatic syndrome; ophthalmoplegia-plus syndrome; mitochondrial cytopathy, ophthalmoplegia, progressive external, with ragged-red fibers; chronic progressive external ophthalmoplegia with myopathy; CPEO with myopathy; CPEO with ...
Other causes appear to be Kearns–Sayre syndrome [5] and autoantibodies to the folate receptor. [6] [7] [8] For people with the FOLR1 mutation, even when the systemic deficiency is corrected by folate, the cerebral deficiency remains and must be treated with folinic acid. Success depends on early initiation of treatment and treatment for a ...
Lesch–Nyhan syndrome; AMPD1 Deficiency (MADD) Disorders of steroid metabolism lipoid congenital adrenal hyperplasia; congenital adrenal hyperplasia; Disorders of mitochondrial function Kearns–Sayre syndrome; Disorders of peroxisomal function Zellweger syndrome; Lysosomal storage disorders. Gaucher's disease; Niemann–Pick disease
The muscle, as in progressive external ophthalmoplegia or Kearns–Sayre syndrome. The neuromuscular junction, as in myasthenia gravis. The relevant cranial nerves (specifically the oculomotor, trochlear, and abducens), as in cavernous sinus syndrome or raised intracranial pressure.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...