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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Until recently, the clinical diagnosis of CJD relied mainly on three criteria. These include patient history (rapidly progressive dementia), neurological findings (ataxia, pyramidal/extrapyramidal signs, myoclonus, akinetic mutism) and typical electroencephalographic (EEG) findings. These criteria are fulfilled in typical cases. The occurrence or increase of certain proteins in cerebrospinal fluid (CSF; 14-3-3, neuron-specific enolase) now provide important adjuncts in recognizing variant forms. Although these proteins can be detected in other neurological diseases accompanied with substantial brain damage such as encephalitis, they are also characterized by their high sensitivity and specificity with regard to other dementing processes (Alzheimer and vascular dementia). The increase in the number of positive cases during the last years in Germany reflects an improved case ascertainment rather than the appearance of the variant CJD (vCJD). Although several recent cases with a long duration of the disease were actually recognized, they did not reveal the typical florid plaques at autopsy. They were revealed as a rare variant of sporadic CJD, which is characterized by homocygosity for valine at codon 129 and PrP(Sc) type 1. This variant is positive for the 14-3-3 protein in CSF. Further subtypes described by Parchi et al. can also be characterized by a certain pattern of clinical symptomatology, EEG- and 14-3-3-findings. In addition, differential diagnosis revealed some treatable dementias among the most common diseases (Alzheimer and vascular dementia) such as herpes encephalitis, multiple sclerosis and Hashimoto encephalitis, particularly in the younger age group.
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PMID:Clinical and differential diagnosis of Creutzfeldt-Jakob disease. 1121 18

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

Hashimoto's encephalopathy may present with a wide variety of different neurological symptoms and signs. These include recurrent severe migrainous headache, psychoses, seizures, ataxia, dementia, stupor and coma. We present a personal series of 18 adult patients with Hashimoto's encephalopathy and a review of the literature in this paper. The natural history, laboratory abnormalities and neuroimaging data in these cases favour an immunopathological basis for this syndrome similar to relapsing acute disseminated encephalomyelitis. We suggest that Hashimoto's encephalomyelitis should be considered in the differential diagnosis of seizures, coma, atypical migraine and reversible dementia. Serological screening for anti-thyroid antibody should form part of the initial investigations in all relapsing and reversible encephalopathies.
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PMID:The clinical spectrum, diagnosis, pathogenesis and treatment of Hashimoto's encephalopathy (recurrent acute disseminated encephalomyelitis). 1287 Oct 97

Hashimoto's encephalopathy and Creutzfeldt-Jakob disease (CJD) often have similar clinical features and may be confused, especially at onset. A 61-year-old woman developed rapidly progressive ataxia, myoclonus and dementia, with abnormalities seen on electroencephalography (EEG). Serum analysis disclosed high titers of antithyroid autoantibodies. Both clinical course and autopsy led to a definitive diagnosis of CJD. This case and a literature review of previous cases confirm that CJD may be confused with Hashimoto's encephalopathy. EEG, clinical and laboratory findings (including the positivity of 14.3.3 protein in the cerebrospinal fluid) are not conclusive for a differential diagnosis, especially at early stages. Only the results of genetic exams can allow a definitive diagnosis in a small percentage of cases while patients are still alive. In patients with unclear symptomatology and rapid onset of myoclonus, dementia and ataxia, the presence of antithyroid antibodies should be examined. If their levels are abnormal, corticosteroid therapy remains mandatory.
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PMID:Creutzfeldt-Jakob disease associated with high titer of antithyroid autoantibodies: case report and literature review. 1459 57

Caselli and colleagues described five cases with encephalopathy, progressive cognitive decline, ataxia, abnormal CSF studies and steroid responsiveness, and proposed the term non-vasculitic autoimmune inflammatory meningoencephalitis (NAIM). Many of these cases had brain biopsy showing mild leptomeningeal perivascular lymphocytic inflammation, however, none of the cases had a post-mortem. Nonvasculitic autoimmune mediated meningoencephalitis has been described in patients with Sjogren's syndrome, systemic lupus erythematosus and, more recently, with Hashimoto's disease. The present study is the first post-mortem report of a case with a clinical diagnosis of NAIM. Neuropathological examination revealed a panencephalitis with intact vessel walls. T and B immunostaining showed a mixture of T and B cells. The findings were not consistent with other reported findings in collagen vascular diseases including Sjogren's syndrome, CNS vasculitis or Hashimoto's encephalopathy. There was no evidence of neoplasia, bacteria, acid-fast bacilli, fungi or atypical infectious agents. This is the first post-mortem report of a case with a clinical diagnosis of NAIM and demonstrates a panencephalitis without evidence of a vasculitis. The pathology seems unique, however, Sjogren and Hashimoto's encephalopathy might be variants of NAIM.
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PMID:Nonvasculitic autoimmune inflammatory meningoencephalitis. 1513 93

A 71-year-old woman with Hashimoto's disease was admitted to our hospital because of involuntary movement, gait disturbance, and mental decline. Her consciousness was alert but her orientation about time and place was disturbed. She was mentally ill (HDS-R; 12/30, MMSE; 14/30), and could not walk because of truncal ataxia. Myoclonus was present in the upper extremities. Laboratory examinations showed hypothyroidism and very high titers of antithyroid antibodies (ATA) in serum. Head MRI showed no abnormal lesions. On electroencephalogram (EEG), the basic rhythm was slow and bursts of irregular slow waves (4-6 Hz) were present. Her conditions gradually ameliorated so that she was discharged. However, she was hospitalized again because of sudden worsening of the illness: her consciousness got disturbed and the myoclonus became marked. As the result, she got bed-ridden. At the time, thyroid function was almost normal, suggesting that the deterioration could not be attributed to hypothyroidism. The EEG findings were quite different from the former: complex of multiple spikes and slow waves was continuously present. Examination of the cerebrospinal fluid (CSF) revealed an elevated level of protein and IgG (cell 1/m3, protein 101 mg/dl, sugar 60 mg/dl ,Cl 124 mEq/l, IgG 20.4 mg/dl). IgG index was 0.57 and Q albumin (CSF-albumin/serum-albumin ratio) was 15.2 (9.0>) . After the second admission, she recovered from the bed-ridden state but was still unable to walk or communicate. She continued to need complete support for all daily lives. The diagnosis was made as Hashimoto's encephalopathy (HE), from the following points: 1) encephalopathy not due to hypothyroidism, 2) very high titers of ATA, 3) elevated CSF protein. The effectiveness of steroid therapy was so amazing that the neurological problems faded away very soon. Finally she completely recovered. As well as the clinical manifestations, the EEG findings were improved. At the stage in which excellent clinical improvement had achieved, head MRI revealed that T2/FLAIR high lesions without Gd-enhancement temporarily appeared diffusely and extensively in the cerebral white matter. They thereafter almost disappeared on follow-up MRI. Judging from the lesions being non-enhanced and reversible, they supposedly reflected brain edema. It is important to keep it in mind that MRI findings may change abruptly and drastically in HE. ATA was detected not only in serum but also in CSF. Either titer thereafter decreased along with the healing of the illness. Concerning the reason why ATA is present in CSF, we supposed leakage from blood through the disrupted blood-brain barrier, for the following reasons: 1) IgG index was normal, 2) Q albumin was elevated, 3) the change of CSF-ATA titer was almost parallel to that of serum-ATA titer, and 4) the white matter lesions, which presumably reflected brain edema, were observed.
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PMID:[Reversible white matter lesions and antithyroid antibodies in the cerebrospinal fluid in Hashimoto's encephalopathy: a case report]. 1538 4

Hashimoto's encephalopathy (HE) is a well-established disease that occurs most commonly in patients with euthyroidism. We report 3 patients diagnosed with HE. Cases 1 and 2 were young females who had experienced intractable seizures and presented with cognitive impairment. Reversible slow waves on the electroencephalogram (EEG), and nearly complete recovery of cognition, were noted after steroid treatment. Case 3 was an elderly male who presented with a sudden onset of vertigo, diplopia, and recurrent gait ataxia. Reversible hypoperfusion in the upper portion of the left cerebellum, on (99m)Tc hexamethylpropyleneamine oxime (HMPAO) single photon emission computed tomography (SPECT), was noted after steroid treatment. We also review 25 cases from the literature of patients diagnosed with HE. All patients had antithyroid antibodies. A reversible inflammatory process is supported by brain magnetic resonance imaging, SPECT, EEG and cerebrospinal fluid studies. Vasculitis is the most probable pathogenesis according to laboratory findings. Steroids are the treatment of choice, and result in a favorable outcome when administered early in the disease course.
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PMID:Reversible electroencephalographic and single photon emission computed tomography abnormalities in Hashimoto's encephalopathy. 1575 19

Hashimoto's encephalopathy (HE) has been described as an encephalopathy, with acute or subacute onset, accompanied by seizures, tremor, myoclonus, ataxia, psychosis, and stroke-like episodes, with a relapsing/remitting or progressive course. HE patients have positive antithyroid antibodies, are usually in a subclinical hypothyroid state, have elevated cerebral spinal fluid (CSF) protein, and have nonspecific electroencephalogram (EEG) and imaging abnormalities in the absence of CNS infection, tumor, or stroke. The authors present two cases of HE, demonstrating an excellent response to high dose steroids acutely followed by long-term treatment with steroids and other immunomodulatory agents. A review of the literature is also provided.
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PMID:Long-term treatment of Hashimoto's encephalopathy. 1652 66

It is well known that selenium plays a fundamental role in regulating thyroid and other functions of the human body like reproduction, autoimmunity, glucose metabolism or bone metabolism. While for thyroid function investigation, radioimmunoassays and radioimmunometric assays both key techniques of nuclear medicine are used, for selenium measurements atomic absorption spectrometry is the method of choice. Normal thyroid gland retains high selenium concentrations even under conditions of inadequate selenium supply and expresses many of the known selenocysteine-containing proteins. Adequate selenium nutrition supports efficient thyroid hormone synthesis and metabolism and protects the thyroid gland damage by excessive iodide exposure. In regions where a combined severe iodine and selenium deficiency exist, normalization of iodine supply is mandatory before initiation of selenium supplementation in order to prevent hypothyroidism. Selenium deficiency and disturbed thyroid function may develop under conditions of special dietary regimens, such as long-term total parenteral nutrition or after inadequate nutrition in children. Some investigators suggest that selenium may be a useful adjunctive treatment for autoimmune thyroid diseases, such as Hashimoto and Graves' disease. Low serum selenium levels have been associated with higher incidence of thyroid cancer, as well as with chronic illness or lomicronw triiodothyronine syndrome. These biological actions are mediated through the expression of selenoproteins, the most important being the glutathione peroxidases, the iodothyronine deiodinases, the thioredoxine reductase and the selenoprotein P. Selenium is also associated with animal proteins. Subsequently meats and seafood are dietary sources of selenium. The ingestion of large quantities of selenium may have adverse effects. It has been shown that dietary intake of about 300 micro g of selenium daily may have a toxic effect on growth hormone and insulin like growth factor-1 metabolism, as well as in the synthesis of thyroid hormones. Main adverse effects may be anorexia, diarrhea, depression, hemorrhage, liver and kidney necrosis, blindness, ataxia and respiratory disturbances. Dermatitis and CNS deficiency have also been described. It is concluded that selenium plays an important role in regulating thyroid function, as well as in the homeostasis of thyroid hormones through the action of selenoproteins, in which it incorporates as selenocystein.
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PMID:[Selenium and thyroidal function; the role of immunoassays]. 1745 Feb 51

A huge number of neurological disorders are associated with myoclonus. This paper describes these disorders whose diagnosis partly relies on the presence of myoclonus. The diagnostic approach is related to certain clinical features of myoclonus, which, after their integration in the clinical context, help orientate towards diagnosis. Myoclonus is frequent during dementia. Although its presence is well-known to take part in the diagnosis of Creutzfeldt-Jakob disease (CJD), myoclonus can also be present to a significant degree in Alzheimer's disease and Lewy body dementia (LBD), which raises a diagnostic issue. Both its clinical and electrophysiological features may help differential diagnosis, given that myoclonus with fast-evolving dementia and focal neurological signs should favor the diagnosis of CJD. Myoclonus in a context of progressive ataxia suggests one clinical form of the Ramsay-Hunt syndrome (progressive myoclonic ataxia, PMA), whose most frequent causes are: coeliac disease, mitochondriopathies, some spino-cerebellar degenerations, and some late metabolic disorders. In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), whose origin, in adult, is idiopathic or paraneoplastic. Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesional disorders, or a familial pattern in some degenerative affections or metabolic diseases. Of more recent knowledge is the association of progressive ataxia, myoclonus, and renal failure, which corresponds to a recessive autosomic disease. In a context of encephalopathy, myoclonus is frequent in metabolic or hydro-electrolytic disorders, and in brain anoxia. One should distinguish these various forms of myoclonus which may occur in the acute post-anoxic phase, from those occurring as sequels at a later stage, i.e. the Lance and Adams syndrome whose clinical aspects are also multiple. Myoclonus is less frequent during toxic or drug exposures. Irrespective of its acute or insidious onset, Hashimoto's encephalopathy is accompanied by myoclonus and tremor. Myoclonus may also be present during encephalic and/or spinal infectious disorders. Myoclonus with focal neurological signs may be observed in thalamic lesions, responsible for unilateral asterixis or unilateral myoclonus superimposed on dystonic posture. Segmental spinal myoclonus or propriospinal myoclonus may be associated with several spinal-cord disorders. Myoclonus associated with peripheral nerve lesions is exceptional or even questionable for some of these.
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PMID:Symptomatic myoclonus. 1733 75


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