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 series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i.e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of ten years. The present series differs from our previous series of 16 cases especially in regard of neurophysiological findings (photic spikes, high visual evoked potential, VEP and high somatosensory evoked potential, SEP). VEP became abnormally high between 8.0 and 9.5 years instead of being an early finding as in the previous series. Photic spikes appeared also later in the present series. Electromicroscopic investigation revealed cytosomes with fingerprint profiles (FP) in the autonomic ganglion cells and cytosomes with both FP and curvilinear (CP) profiles in many extraneural cells including smooth muscle, Schwann cells, capillary endothelium and macrophages. In the light of our 21 Finnish patients and the literature, the spectrum of Jansky-Bielschowsky disease seems to be much wider than previously assumed. The diagnosis should be based on clinical, ophthalmological, neurophysiological and ultrastructural findings. Repeated neurophysiological studies may be necessary.
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PMID:The spectrum of Jansky-Bielschowsky disease. 164 78

A 42-year-old woman who presented phenytoin intoxication induced by acute hypothyroidism was reported. She had a 29-year history of hypothyroidism and a 18-year history of epilepsy. She was treated with phenytoin (PHT) 100 mg, mephobarbital (MPB) 200 mg, valproic acid (VPA) 400 mg and thyroid powder 100 mg daily for 2 years. She had no medical problem until she noticed gait disturbance and diplopia which appeared 1 month after sudden withdrawal of thyroid powder. On admission, she was somnolent and somewhat disoriented. She had nystagmus in horizontal direction of gaze. Her speech was slurred and she could not sit nor stand due to trunkal ataxia. There was prominent intentional tremor in finger-nose test and heel-shin test showed severe ataxia. Blood cell count and blood chemistry examinations were normal. Serum PHT, phenobarbital (PB) levels were elevated as to 26.4, 36.4 micrograms/ml, respectively. VPA level was low. The endocrinological examinations revealed primary hypothyroidism. EEG showed generalized slow background, but cranial MRI, EMG, SEP and ECG were normal. Thyroxine (T4) administration was started soon, and in the course of thyroid hormone replacement, her cerebellar symptoms gradually improved and serum PHT level decreased even to the subtherapeutical level with the same amount of antiepileptic drugs treatment. By the 40th day of admission, thyroid function became normal and cerebellar signs disappeared, however, she needed 200 mg PHT daily to obtain good control of epilepsy. Cerebellar symptoms of this patient were thought to be PHT intoxication rather than ataxia caused by hypothyroidism itself from the viewpoint of clinical manifestations.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of phenytoin intoxication induced by hypothyroidism]. 193 66

Detailed electrophysiological studies were performed in 4 patients with myeloneuropathy induced by abuse of nitrous oxide for 1 to 4 years. All presented with paresthesias, weakness, and Lhermitte's phenomena, and exhibited signs of sensorimotor polyneuropathy, ataxia, and arreflexia. Two had subnormal serum vitamin B12 levels. Baseline electrophysiologic testing revealed reduced motor unit potentials, prolonged F wave latencies, absent H reflexes, denervation potentials, and delays in motor and sensory conduction. Three had peripheral and nuchal delay after median nerve stimulation. All were reevaluated after 3 to 12 months' abstinence and treatment with vitamin B12, and all showed substantial clinical improvement. Parallel improvement in electrophysiologic findings occurred, but residual minor conduction delays, loss of H reflexes, electromyographic evidence of denervation, or abnormalities of posterior tibial SEP were noted. These findings confirm the reversibility of myeloneuropathy of nitrous oxide abuse and describe the profile of electrophysiologic recovery in subjects who abstain from further neurotoxic exposure.
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PMID:Reversible myeloneuropathy of nitrous oxide abuse: serial electrophysiological studies. 199 94

Nerve conduction studies, median nerve somatosensory (SEPs) and pattern-reversal visual evoked potentials (VEPs) were recorded in 10 patients with late onset ataxia. Nine patients had dysfunction of somatosensory pathways, eight of them axonal polyneuropathy in nerve conduction measurements, and four had also impaired impulse conduction along the visual pathways. Abnormalities in records of evoked potentials occurred as prolonged latencies rather than reduced amplitudes. The observed dysfunction of peripheral and central pathways was not related to the duration or the severity of the clinical involvement by the disease. It is emphasized, however, that there seemed to be a relationship between the prolonged SEP latencies and the impaired peripheral nerve conduction values and between the diminished VEP amplitudes and the most delayed VEP latencies.
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PMID:Involvement of somatosensory and visual pathways in late onset ataxia. 244 43

The central conduction time of the descending and ascending fibers of the spinal cord were examined in patients with radiologically defined cervical spinal stenosis (antero-posterior diameter of the spinal canal less than 13 mm). Nineteen patients were examined, only 4 of whom showed clinical signs of spastic weakness or ataxia. The electromyographic response after non-invasive stimulation of the leg area of the motor cortex was delayed in 13 of the 15 clinically unaffected patients. The central latency (N21-P39) of the somatosensory evoked response after stimulation of the tibial nerve (tibialis SEP) was increased in 12 of the 15 individuals. The 4 patients with clinical signs showed abnormal latencies with both methods. The use of both techniques for the examination of the function of the spinal cord revealed increased latencies in the central motor and/or sensory pathways in all patients. The technique of non-invasive stimulation of the corticospinal system therefore provides an additional tool to detect and quantify subclinical and clinically apparent lesions in patients with defined cervical spinal stenosis.
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PMID:Functional deficits of central sensory and motor pathways in patients with cervical spinal stenosis: a study of SEPs and EMG responses to non-invasive brain stimulation. 248 Feb 25

Acute autonomic and sensory neuropathy (AASN), one subtype of acute pandysautonomia, in which dorsal root ganglia and autonomic ganglia are involved is uncommon. Little is so far known on central nervous system involvement in AASN. In the present paper we described a rare case of AASN associated with the central nervous system manifestations such as galactorrhea-amenorrhea syndrome and intractable anorexia. A 30-year-old woman rapidly developed burning pain and numbness in her arms and legs as well as orthostatic syncope. She had severe anorexia and no no menstruation from onset. On physical examination, she was emaciated. There was marked orthostatic hypotension with tachycardia. Skin was dry. Moderate galactorrhea was detected. Neurological examination showed prominent paresthesia and dullness of superficial sensation, predominantly to pinprick and thermal stimuli, segmentally over the neck, occipital scalp, and extremities. Deep sensation was intact. She had no weakness or ataxia. Deep tendon reflexes were almost normal. NCV and SEP were normal, while EEG was abnormal. Sural nerve biopsy demonstrated axonal degeneration with the loss of myelinated, predominantly in small-caliber fibers, and unmyelinated fibers. The levels of HVA and MHPG in CSF were decreased. The autonomic nervous function tests revealed postganglionic dysfunction. alpha-adrenergic system was predominantly impaired, while beta-adrenergic system was relatively preserved. The endocrinological studies demonstrated mild or moderate elevation of PRL basal value and hyper-response of PRL and LH for TRH and LH-RH loading test, which suggested disorder of the hypothalamo-hypophysial system. Cranial MRI showed moderate dilatation of the 3rd ventricle.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Acute autonomic and sensory neuropathy associated with galactorrhea-amenorrhea syndrome and intractable anorexia]. 255 96

Results of comprehensive serial neurophysiological tests from onset to full recovery in 3 patients with the Miller Fisher syndrome (acute ophthalmoplegia, ataxia and areflexia) are presented. These included EMG and nerve conduction, late response (H and F wave) and direct facial motor and blink reflex studies, computerized motor unit number estimation, automated quantitative sensory threshold measurements, quantitative pupillometric and pupillopharmacological studies and multimodality evoked potential (VEP, SEP and BAEP) and EEG recordings. The results provided unequivocal evidence of peripheral nerve dysfunction. Improvement of the peripheral neurophysiological parameters accompanied or followed clinical recovery in all 3 patients. No abnormality in the CNS pathways investigated by these tests was found. The findings support the conclusion that this syndrome is to be included within the spectrum of acute inflammatory polyneuropathy. The value of serial measurements in detecting milder peripheral nerve lesions is emphasized.
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PMID:The localization of the lesion in patients with acute ophthalmoplegia, ataxia and areflexia (Miller Fisher syndrome). A serial multimodal neurophysiological study. 283 20

26 patients with ataxic hemiparesis syndrome (AHS), due to acute ischemic cerebrovascular disease, have been submitted to clinical and electrophysiological evaluation, in order to assess the frequency of sensory disturbances in this condition. Sensory impairment were present in 78% and SEP abnormalities in 54% of the patients, while they were entirely absent in 23% of them. Lesions responsible for AHS, detected by CT scan, were mainly located in the thalamus, capsula interna, subcortical white matter, centro parietal cortex; sensory and SEP changes were more frequent in gross infarct involving the cortex and in smaller infarcts involving the thalamus, less frequent in the lacunar infarcts of the capsula interna and subcortical white matter, relatively rare in patients with CT scan without hypodense lesions. Although a statokinesthesic defect and/or major SEP abnormalities were often present (38% of patients), our findings do not support the view that they are involved in the pathogenesis of the ataxia, which may rather be attributed to a derangement of cerebro-cerebellar and cerebello-cerebral connections.
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PMID:Ataxic hemiparesis syndrome: sensory disturbances and somatosensory evoked potentials. 321 46

Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in most patients except those with olivopontocerebellar atrophy. SEP results were often more severely abnormal in patients with Friedreich's ataxia. The observations emphasize the similarity in expression of different metabolic-degenerative disorders. When these tests are used clinically, certain features of evoked potentials (especially left-right symmetry) are typical of the inherited ataxias as a group. Few distinguishing features differentiate the individual disorders.
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PMID:Evoked potential abnormalities in the various inherited ataxias. 683 Jan 60

This report describes a patient with degenerative type of progressive myoclonus epilepsy (PME), who showed slowly progressive deterioration of the central nervous system; intellectual impairment, dysarthria, and involuntary movements, particularly action myoclonus and dystonia. The patient was a 19-year-old woman who had no hereditary factors. At the age of 4, she developed action myoclonus in the upper limbs bilaterally. Her condition became gradually worse, and at the age of 15, she was admitted to our hospital because of involuntary movement in the upper limbs. First physical examination revealed mild mental retardation, action myoclonus, dystonia, and delayed adolescence. As giant SEP characteristic of PME and Ramsay Hunt syndrome was found, she was tentatively diagnosed as having Ramsay Hunt syndrome without epilepsy, and delayed adolescence. Now, she is 19 years old, and unable to walk alone because of involuntary movements and paralysis. But she has not developed epilepsy. As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.
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PMID:[A case of degenerative type of progressive myoclonus epilepsy]. 841


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