Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 65 year old woman, referred for differential diagnosis of dementia, presented with cognitive and mnestic deficits. Typical signs and symptoms of hypothyroidism led to the diagnosis of severe autoimmune thyroiditis. After six months of treatment with thyroid hormone, dementia, myopathy and ataxia had disappeared. The neurologic and neuropsychologic manifestations of hypothyroidism are discussed. In dementia the diagnosis of secondary and reversible forms is of great importance with regard to prognosis and treatment. Hypothyroidism is known to be a common and treatable cause of pseudodementia. Early diagnosis and adequate treatment are important to prevent further permanent deterioration of cerebral function.
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PMID:[Reversible dementia]. 965 92

The Kearns-Sayre syndrome (characterized by onset before 20, chronic ophthalmoplegia, pigmentary retinal degeneration and at least 1 of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia (CPEO) with frequent re-arrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c oxidase in many muscle fibers, autoimmune thyroiditis followed by depressive phobic disturbances, slowing EEG, hyperreflexia, tremor and visual hallucinations, in which the diagnosis of possible encephalopathy associated with autoimmune thyroid disease (Hashimoto encephalopathy) was made. We speculated that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with mitochondrial cerebral function, causing Hashimoto encephalopathy and facilitating ophthalmoplegia. It seems important to study anti-thyroid antibodies in every case of Kearns-Sayre syndrome, specially if ophthalmoplegia is recent, even in order to the therapy.
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PMID:A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. 1209 44

The Kearns-Sayre syndrome, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary retinal degeneration and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c-oxidase in many muscle fibers, autoimmune thyroiditis, complete atrio-ventricular heart block in which the diagnosis of subclinical hypothyroiditis associated with autoimmune thyroid disease was made. The subclinical hypothyroidism, more severe in the presence of thyroid antibodies, may have contributed to the pathogenesis of cardiovascular disease. We hypothesized that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with the mitochondrial function of conduction heart system, causing atrio-ventricular heart block. It seems important to study anti-thyroid antibodies in every case of Kearn-Sayre syndrome, specially if cardiac rhythm disturbances are present.
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PMID:A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block. 1673 14

We report the first case of an autoimmune thyroid encephalopathy presenting with multifocal motor status epilepticus. A 37-year-old female patient was admitted with multifocal motor seizures intractable to intravenous status epilepticus treatments, asymmetrical quadriparesis, truncal ataxia and continuous semi-rhythmical jerks. Pathological signal alterations were detected in both precentral cortices in MRI examination. Autoimmune thyroiditis was diagnosed after radiological examinations of the thyroid gland and thyroid function tests. Seizures promptly ceased following intravenous steroid treatment. Immunohistochemistry studies showed mild to moderate neuronal staining with the plasma and CSF samples. Remarkably, autoimmune thyroiditis may present with migrating focal motor status epilepticus. We recommend anti-thyroid antibody screening for multifocal motor status epilepticus cases of unspecified cause.
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PMID:Autoimmune thyroid encephalopathy presenting with epilepsia partialis continua. 1692 5

We present a 58-year-old female with gradual cognitive decline and gait instability over 6 months. Her motor examination was notable for myoclonus, brisk reflexes with flexor plantar responses, and a cautious gait without ataxia. Cognitive testing revealed mildly impaired attention, but profoundly impaired calculation, judgment and visual memory. There were no manifestations of autoimmune thyroid disease. Routine laboratory analysis was unrevealing. Cerebrospinal fluid analysis was remarkable only for an elevated protein of 0.64 g/L (normal <0.45 g/L). Electroencephalography demonstrated intermittent bitemporal slowing. Brain MRI with gadolinium demonstrated extensive bilateral subcortical and periventricular white matter T2-weighted and hyperintensity on fluid attenuated inversion recovery MRI. Elevated anti-thyroperoxidase antibody of 8.07 IU/mL (<5.61 IU/mL) and thyroglobin antibody of 9.85 IU/mL (<4.11 IU/mL) were found and steroid responsive encephalopathy associated with autoimmune thyroiditis was diagnosed. Methylprednisolone (1 g daily for 3 days) resulted in dramatic improvement in cognition and mobility, which remained on follow-up.
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PMID:A patient with steroid responsive encephalopathy associated with autoimmune thyroiditis. 2288 22

Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM). Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion) anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS.
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PMID:Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. 2394 15

Hashimoto's encephalopathy (HE) is an autoimmune form of encephalopathy, associated with autoimmune thyroiditis. Its prevalence is estimated to be 2:100,000. HE is characterized by behavioral changes, mental confusion, dysarthria, ataxia, psychosis, paranoia, convulsions, hallucinations, headache and hyperthermia. Elevated thyroid antibodies are necessary for diagnosis and the disease responds dramatically to glucocorticoid therapy. We describe a patient with HE and panniculitis, an association reported twice in the literature.
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PMID:Hashimoto's encephalopathy in a patient with septal panniculitis: a case report. 3057 Feb 47