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)

We report a sporadic case of spinocerebellar ataxia accompanied by later but severe involvement of the motor neuron system. A 72-year-old man began to show ataxia and dysarthria at age 66 years. Neurological examinations revealed saccadic eye movement, slurred speech, truncal ataxia, pyramidal sign, and urinary disturbance. Neither history of alcoholism nor hereditary factors were found. He developed muscular atrophy of the lower and upper extremities and limb ataxia within three years. Superficial and deep sensations were diminished in both feet four years after onset. Thus, he presented with cerebellar ataxia, bulbar sign, upper and lower motor neuron symptoms, sensory disturbance, and autonomic sign after six years at age 72. The level of serum, creatine phosphokinase (CPK) was increased, and muscle biopsy showed marked neurogenic change. Magnetic resonance imaging (MRI) revealed mild cerebellar and pontine atrophy. Although the combination of spinocerebellar ataxia and motor neuron disease is very rare, the present case suggests the inter-relation of the spinocerebellar and motor neuron systems, and presents peripheral neuropathy as a subtype of multisystem atrophy.
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PMID:A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system. 1104 17

Wernicke's encephalopathy (WE) is most commonly associated with alcoholism, although other causes have also been implicated. In the years 1994-1997, 9 patients with no history of alcohol abuse presented with acute signs of ophthalmoplegia or nystagmus and ataxia which resolved within 48 h after intravenous thiamine. There were 7 women and 2 men aged 17-57 (7 below the age of 30). Precipitating events included vomiting 2, drastic weight-reducing diet 2, renal colic in a postpartum woman 1, colonic surgery 2 and chronic hemodialysis 1. In 2 patients there was no obvious precipitating event but their history was suggestive of a genetic predisposition. Mental changes were slight or absent in all patients and all of them made good functional recovery. These cases suggest that the diagnosis of WE should be considered more often in nonalcoholics in various clinical settings.
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PMID:Thiamine-responsive acute neurological disorders in nonalcoholic patients. 1115 Aug 38

A 58-year-old woman began to show ataxia at age 45 and dysarthria at age 56. Neurological examination revealed slurred speech, truncal ataxia, and pyramydal sign. Neither history of alcoholism nor hereditary factors were found. The level of serum ammonia was increased. Brain MRI study showed a high signal intensity in the cerebral peduncle and globus pallidus and mild cerebellar atrophy on T1-weighted image. A portal-systemic shunt due to a shunt vessel was found between the left splenic and kidney veins although she did not show any other symptoms or signs due to liver cirrhosis. Her symptoms dramatically improved by an intravenous administration of branched amino acid. The present case suggests an importance in finding a treatable cerebellar ataxia.
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PMID:[Portal-systemic shunt with cerebellar ataxia as the initial neurological manifestation which was dramatically improved by an intravenous administration of branched amino acid]. 1186 49

Vitamin E deficiency is frequently observed in human pathology. In most cases, deficiency is moderate and asymptomatic. Severe deficiency is rare and presents as a progressive neurological syndrome including cerebellar ataxia and posterior cord injury. Neuropathological and electrophysiological features confirm spinocerebellar degeneration. The pathophysiology of vitamin E deficiency nervous dysfunction is still unknown. Oxidative alterations due to the lack of the main lipid-soluble antioxidant could be involved. A few causes of vitamin E deficiency are recognized (malnutrition, impaired lipid absorption, specific anomaly of hepatic or intestinal secretion of vitamin E, excessive endogenous consumption), but diseases associated with vitamin E deficiency are numerous and divers. Symptomatic severe deficiency is constantly observed in ataxia with vitamin E deficiency and abetalipoproteinemia. Intestinal, hepatobiliary, and pancreatic diseases are often associated with more or less marked deficiency. Other pathological circumstances such as malnutrition, alcoholism, hemolytic anemia, renal failure and hemodialysis could be associated with moderated and asymptomatic vitamin E deficiency. Oral or regular administration of high-dose vitamin E is required for patients with symptomatic severe deficiency. An adapted supplementation is recommended for patients with a marginal vitamin E status.
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PMID:[Vitamin E deficiency. Etiopathogenesis, clinical, histopathologic, and electrical features, and main etiologies]. 1190 52

Risk for onset of alcoholism is related to genetic differences in acute alcohol withdrawal liability. We previously mapped a locus responsible for 26% of the genetic variance in acute alcohol withdrawal convulsion liability to a >35 centimorgan (cM) interval of murine chromosome 4. Here, we narrow the position of this locus to a <1 cM interval (approximately 1.8 megabase, containing 15 genes and/or predicted genes) using a combination of novel, interval-specific congenic strains and recombinant progeny testing. We report the development of a small-donor-segment congenic strain, which confirms capture of a gene affecting alcohol withdrawal within the <1 cM interval. We also confirm a pentobarbital withdrawal locus within this interval, suggesting that the same gene may influence predisposition to physiological dependence on alcohol and a barbiturate. This congenic strain will be invaluable for determining whether this interval also harbors a gene(s) underlying other quantitative trait loci mapped to chromosome 4, including loci affecting voluntary alcohol consumption, alcohol-induced ataxia, physical dependence after chronic alcohol exposure, and seizure response to pentylenetetrazol or an audiogenic stimulus. To date, Mpdz, which encodes the multiple PSD95/DLG/ZO-1 (PDZ) domain protein (MPDZ), is the only gene within the interval shown to have allelic variants that differ in coding sequence and/or expression. Sequence analysis of 15 standard inbred mouse strains identifies six Mpdz haplotypes that predict three MPDZ protein variants. These analyses, and evidence using interval-specific congenic lines, show that alcohol withdrawal severity is genetically correlated with MPDZ status, indicating that MPDZ variants may influence alcohol withdrawal liability.
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PMID:Congenic mapping of alcohol and pentobarbital withdrawal liability loci to a <1 centimorgan interval of murine chromosome 4: identification of Mpdz as a candidate gene. 1197 49

Lithium has many medical and psychiatric uses. These include cluster and migraine headaches, alcoholism, impulsive behavior, and bipolar disorder. Toxicity from lithium can occur by overdose (intentional or accidental) or, more commonly, from alteration in its clearance by the kidney. We present two cases of lithium toxicity. The first is a 57-year-old male who presented with confusion, ataxia, and lethargy. The second case involves a 52-year-old female with bizarre behavior who was unable to care for herself. Both patients received dialysis and recovered without sequelae.
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PMID:Lithium toxicity: two case reports. 1213 13

Abnormalities of cerebellar structure and function, long recognized as a hallmark of chronic alcohol abuse, have also occasionally been noted in patients with schizophrenia. We used a four-point rating scale to assess clinical signs of cerebellar dysfunction in men meeting DSM-IV criteria for schizophrenia (N=34) and alcohol dependence (N=15) as well as normal control subjects (N=28). Compared to controls, alcoholics had impaired ratings of gait ataxia and instability of stance with eyes closed, and schizophrenics had impaired ratings of stance with eyes closed. The incidence of dysdiadochokinesia was greater in schizophrenics, but not alcoholics, than controls. The incidence of gait and stance abnormalities was higher in both patient groups relative to controls: within the schizophrenic group, 50-70% of those with positive signs for gait or stance impairment were comorbid for alcoholism, while only 25% of those with positive signs for dysdiadochokinesia were comorbid for alcoholism. The presence of dysdiadochokinesia in the schizophrenic group suggests cerebellar dysfunction that is independent of the effects of alcohol. By contrast, clinical signs of cerebellar dysfunction of gait and stance in patients with schizophrenia may be secondary to the effects of alcohol on the cerebellum.
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PMID:Clinical signs of cerebellar dysfunction in schizophrenia, alcoholism, and their comorbidity. 1222 60

Marchiafava-Bignami Disease (MBD) is a rare, severe and usually fatal neurological disorder associated with chronic alcoholism. Previously, the definite diagnosis was confirmed at the autopsy. After the era of modern imaging technology, diagnosis was based on clinical profiles, history of alcoholism and specific location of pathology in corpus the callosum demonstrated by MRI. The authors reported a case of MBD in a 41 year-old alcoholic Thai male who presented with acute confusion and ataxia. MRI of the brain demonstrated demyelination, edema and necrosis of the corpus callosum with extensive symmetrical subcortical white matter lesions. He had a dramatic recovery after treatment with intravenous thiamine. Follow-up MRI revealed atrophic and cystic changes of the corpus callosum and almost complete resolution of the subcortical lesions. Recently, 15 cases of MBD with specific corpus callosal lesion, demonstrated by MRI, were published in the English literature. All had a favorable outcome after treatment with thiamine. Only one case had extensive extracallosal lesions and this case also had a good recovery after treatment. Now, MBD is not a fatal disease and early diagnosis and treatment are crucial.
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PMID:Marchiafava-Bignami disease: a case report. 1232 51

Central pontine myelinolysis should be considered in the differential diagnosis of a patient with a history of alcoholism and malnutrition presenting with ataxia, regardless of serum sodium values. T2-weighted images are the most sensitive imaging technique, but changes may not be evident for weeks after the insult, and in addition, the insult may not be known. Supportive care is important to prevent complications, but no treatment has been found to be effective in treating the illness. Patient outcomes vary considerably and are difficult to predict.
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PMID:A 47-year-old alcoholic man with progressive abnormal gait. 1243 Sep 76

Alcoholism is associated with a higher incidence of smoking. In addition to the stimulatory effects of both ethanol and nicotine on the mesolimbic reward pathway, nicotine's ability to counteract some of the adverse effects of ethanol (e.g. ataxia) may be a powerful incentive for alcohol consumers to increase their tobacco (nicotine) intake. The cerebellum is believed to play an important role in ethanol-induced ataxia. In this study, we sought to test the hypothesis that nicotine would protect against toxic effects of ethanol in primary cultures of cerebellar granule cells. Moreover, it was postulated that the effects of nicotine would be mediated through nicotinic receptors. Primary cultures of cerebellar granule cells were prepared from 20-day embryos obtained from timed-pregnant Sprague Dawley rats. Cells were cultured for 10 days and were then exposed for 3 days to various concentrations of ethanol with and without pretreatment with nicotine and nicotinic antagonists. Cellular toxicity was evaluated by measuring the lactate dehydrogenase level. Administration of ethanol (10-100 mM) resulted in a dose-dependent toxicity. Pretreatment with nicotine 1-20 micro M resulted in a dose-dependent protection against ethanol-induced toxicity. The effects of nicotine were blocked by pretreatment with nicotinic antagonists such as mecamylamine 1-20 micro M, dihydro-beta-erythroidine 1.0 nM-1.0 micro M and methyllycaconitine 5 nM-5 micro M in a dose-dependent manner. Thus, ethanol-induced cytotoxicity in primary cultures of cerebellar granule cells is blocked by pretreatment with nicotine. The effects of nicotine, in turn, may be blocked by nicotinic antagonists, implicating both high and low affinity nicotinic receptors in mediating the actions of nicotine. The exact mechanism of ethanol-induced toxicity and/or neuroprotection through activation of nicotinic receptors in this paradigm remains to be elucidated. The neuroprotective effect of nicotine against ethanol-induced toxicity in cerebellar neurons may be a contributing factor to the high incidence of smoking among alcoholics.
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PMID:Protective effects of nicotine on ethanol-induced toxicity in cultured cerebellar granule cells. 1471 50


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