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Biomedical subjects

V G Evidente

Publications and source records attributed to V G Evidente.

At least 19 recordsLinked to original sources
PubMed2005

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.

Adult↗
PubMed2001

Piribedil for restless legs syndrome: a pilot study.

Thirteen consecutive patients with restless legs syndrome (RLS) were treated with piribedil and were rated using an RLS rating scale (0-10) and subjective response (0-100%); 11/13 (85%) had improvement of their mean RLS scores with subjective response ranging from 30% to 100% (mean 74.6%). This pilot study suggests that piribedil is effective for RLS.

Adult↗
PubMed2001

Serum leptin concentrations and satiety in Parkinson's disease patients with and without weight loss.

We compared serum leptin and satiety measures in 18 Parkinson's disease (PD) patients with unintended weight loss (WL) and 18 PD patients whose weight was stable (WS). Mean serum leptin concentrations tended to be lower in WL than WS patients, but this did not reach statistical significance. Body mass index correlated with serum leptin concentrations. Ratings of hunger, satiety, fullness, and thirst did not differ between groups. However, the mean sensation of fullness before meals correlated with serum leptin in the entire cohort of patients, particularly in the WL group. The results indicate that unintended weight loss in PD patients is unlikely to be due to abnormal serum leptin concentrations.

Aged↗
PubMed2001

Persistent chorea triggered by hyperglycemic crisis in diabetics.

Five female patients developed chorea concurrent with, or shortly after a hyperglycemic episode (admission glucose values 500-1,000 mg/dL). In four of these five patients, there was no prior history of diabetes mellitus. The chorea continued despite correction of blood glucose and persisted to the time of last follow-up, 6 months to 5 years later. The chorea developed subacutely over 2 days to 1 month and was generalized in one, unilateral in three, and involved right > left lower extremity in the other; the severity initially reached ballistic proportions in two. Associated clinical features were nil in four of these patients, but cognitive impairment and personality change occurred in one. The histories and laboratory studies identified no predisposing factors other than the hyperglycemia. The chorea was sufficiently troublesome to require administration of neuroleptic medication in all five cases. Four of the five cases had high signal intensity within basal ganglia on T1-weighted magnetic resonance (MR) imaging, as has previously been described; however, this was not seen in one case (who had the most severe clinical condition). Most previously described cases have involved a reversible clinical syndrome, in contrast to our patients. The pathogenic mechanisms remain uncertain.

Acute Disease↗
PubMed2000

Amantadine is beneficial in restless legs syndrome.

Twenty-one patients (mean age 70 yrs) with restless legs syndrome (RLS) were treated with amantadine in an open-label trial. Amantadine was started at 100 mg per day and was increased every 3-5 days by 100 mg (up to a maximum of 300 mg per day) until significant relief of symptoms or intolerable side effects were experienced. Patients were rated pre- and posttreatment using an RLS rating scale (0-10). Each patient also rated the degree of response in a continuous scale from 0% (no improvement) to 100% (complete improvement). Eleven of 21 (52%) had subjective benefit to amantadine, with degree of response ranging from 25%-100% (mean 69%) among responders. Six had 95%-100% improvement. The RLS score for all 21 patients dropped from a mean (+/- standard deviation) of 9.8 +/- 0.6 (range, 8-10) pretreatment to 6.6 +/- 3.8 (range, 0-10) posttreatment (p = 0.001). The duration of response was 0-13 months (mean, 3.6 +/- 4.5), with nine responders still remaining on the drug as of last follow up. The mean effective dose was 227 mg per day. The most common side effects were drowsiness (3), fatigue (2), and insomnia (2); only two stopped amantadine because of side effects. We conclude that amantadine is an effective and well-tolerated drug for RLS.

Aged↗
PubMed2000

Understanding essential tremor. Differential diagnosis and options for treatment.

Although essential tremor is common, its various presentations may be confused with other movement disorders, such as Parkinson's disease and dystonic tremor. In this article, Dr Evidente describes classification of tremor, the clinical features of essential tremor, and the differential diagnostic considerations. He also discusses the extensive list of medications used to treat the disorder and the surgical options for severe, drug-resistant cases.

Adult↗
PubMed2000

Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders.

Tics are characterized by sterotyped, purposeless, and irregularly repetitive movements and usually can be classified as chronic motor or vocal tic disorders, transient tic disorders, or Tourette's syndrome. The latter is a complex disorder associated with multiple tics and often accompanied by other conditions, such as ADHD and obsessive-compulsive disorder. Treatment can be difficult, and drug therapy should begin with agents least likely to cause problems for the patient. Education of the patient and family and support from the physician and other care providers are essential elements of effective management.

Child↗
PubMed2000

Hereditary ataxias.

There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. Molecularly, many of them are due to trinucleotide repeat expansions. In Friedreich ataxia, the trinucleotide repeat expansions lead to a "loss of function." In the dominant ataxias, the expanded repeats lead to a "gain of function," most likely through accumulation of intranuclear (and less commonly cytoplasmic) polyglutamine inclusions. Channelopathies can also lead to ataxia, especially episodic ataxia. Although phenotypic characteristics are an aid to the clinician, a definitive diagnosis is usually made only through genotypic or molecular studies. Genetic counseling is necessary for the testing of symptomatic and asymptomatic individuals. No effective treatment is yet available for most ataxic syndromes, except for ataxia with isolated vitamin E deficiency and the episodic ataxias.

Ataxin-1↗
PubMed1999

Intersubject variability and intrasubject reproducibility of the bereitschaftspotential.

We assessed the intersubject variability and intrasubject reproducibility of the bereitschaftspotential (BP). Twenty healthy volunteers performed extensions of their wrist in a self-paced manner every 5-10 seconds. A surface electromyography (EMG) electrode was attached to the wrist extensor group of the dominant hand to record at least 100 wrist movements, and electroencephalography electrodes were placed over the scalp. Trials were performed at baseline, 15 minutes, 4 hours, and 4 weeks. Measures derived from the BP included area 1 (-2000 to -650 msec), area 2 (-650-0 msec), total area (area 1 + area 2), amplitude at -650 msec, amplitude at peak negativity prior to EMG onset, and amplitude at 0 msec (trigger). Our findings revealed different variability/reproducibility depending on the particular BP measure being analyzed. Using intraclass correlation coefficient (ICC) and concordance correlation coefficient (CCC) as measures of intrasubject reproducibility, area 2, amplitude at peak negativity prior to EMG onset, and amplitude at 0 msec produced the best values. We conclude that in studies that attempt to quantify BP changes before and after an intervention in the same group of subjects, the most reproducible BP measures are those pertaining to the late BP component.

Adolescent↗
PubMed1999

How to help patients with restless legs syndrome. Discerning the indescribable and relaxing the restless.

Restless legs syndrome is a common, potentially disabling condition that affects about 10% to 15% of the general population and yet is often unrecognized and misdiagnosed. It is mainly diagnosed clinically and only rarely requires polysomnography. The condition is usually primary and treatable. First, however, secondary causes should be sought, especially iron deficiency and peripheral neuropathy, because when the source is an accompanying factor or condition, the syndrome may be curable. The most effective drugs are dopaminergic agents, clonazepam, opioids, gabapentin, and clonidine. Additional agents are available that may be beneficial as add-on or alternative therapy.

Anti-Anxiety Agents↗
PubMed1998

Erdheim-Chester disease with extensive intraaxial brain stem lesions presenting as a progressive cerebellar syndrome.

We report a rare case of Erdheim-Chester disease (ECD) presenting as a progressive cerebellar syndrome and diabetes insipidus. On magnetic resonance imaging, a 7-mm extraaxial, enhancing mass was seen enveloping the right vertebral artery and was confirmed at autopsy to represent an adventitial xanthoma with lipid-laden, foamy histiocytes. The cerebellar syndrome most likely resulted from extensive histiocytic infiltration of the pons, particularly the basis pontis and middle cerebellar peduncles.

Aged↗
PubMed1998

Effective treatment of orthostatic tremor with gabapentin.

We report seven patients with orthostatic tremor (OT) who were successfully treated with the anticonvulsant gabapentin. Five of the patients had been previously tried on clonazepam, the most commonly used drug for OT, four without any benefit. The degree of improvement perceived by the patients with gabapentin varied from 60-80% (mean 73%). The effective dose of gabapentin ranged from 300-1800 mg/day (mean 1030 mg/day). The side effects were generally mild, transient, and dose-related. Duration of response has so far ranged from 2-22 months (mean 11 months) with all patients still currently benefiting from gabapentin. We conclude that gabapentin may be an effective treatment for OT. Further trials are indicated.

Acetates↗