RESUMO
Restless legs syndrome (RLS) is a perplexing, debilitating, and fairly common condition that can be challenging to manage. Hallmark symptoms include an increase in the severity of sensations during rest and an irresistible urge to move the affected limbs. RLS often occurs concomitantly with periodic limb movement disorder. There are no known causes of RLS, but likely triggers include heredity, iron and vitamin deficiencies, caffeine, and alcohol. Chronic conditions such as diabetes, peripheral neuropathy, and Parkinson's disease can worsen and prolong RLS symptoms. Symptom management begins by establishing proper nutrition intake and improved sleep hygiene. If these fail, conservative pharmacologic treatment is appropriate, with regimens chosen from dopaminergic agents, benzodiazepines, opioids, and anticonvulsants.
Assuntos
Síndrome das Pernas Inquietas/terapia , Diagnóstico Diferencial , Humanos , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/etiologia , Fatores de RiscoRESUMO
Treatable causes of parkinsonian syndromes are rare; Whipple's disease is one of them. A patient is described who presented with a parkinsonian syndrome and abnormal vertical gaze. Measurement of eye movements showed marked slowing of upward saccades, moderate slowing of downward saccades, a full range of voluntary vertical eye movements, curved trajectories of oblique saccades, and absence of square wave jerks. These features, atypical of progressive supranuclear palsy, suggested the diagnosis of Whipple's disease, which was subsequently confirmed by polymerase chain reaction analysis of intestinal biopsy material. Precise measurement of the dynamic properties of saccadic eye movements in parkinsonian patients may provide a means of identifying treatable disorders.
Assuntos
Movimentos Oculares , Paralisia Supranuclear Progressiva/diagnóstico , Doença de Whipple/diagnóstico , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Intestino Delgado/microbiologia , Intestino Delgado/patologia , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Movimentos SacádicosRESUMO
We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not functional. Six other relatives were analyzed for the mutation and two female carriers were identified. Autopsy data on one male are presented.
Assuntos
Esclerose Cerebral Difusa de Schilder/genética , Proteína Proteolipídica de Mielina/genética , Paraplegia/genética , Mutação Puntual , Cromossomo X/genética , Adulto , Sequência de Bases , Encéfalo/patologia , Pré-Escolar , Códon sem Sentido/genética , DNA/genética , Esclerose Cerebral Difusa de Schilder/patologia , Feminino , Ligação Genética , Humanos , Masculino , Paraplegia/patologia , Linhagem , Polimorfismo Conformacional de Fita Simples , Medula Espinal/patologiaRESUMO
It has been suggested that deep brain stimulation (DBS) is less effective in alleviating proximal than distal postural arm tremor reduction is said to be less in essential tremor (ET) than in Parkinson's disease (PD). We analyzed blinded rater's tremor scores and subjects' disability ratings at 3-month follow-up to examine the effects of DBS based on tremor type (rest, kinetic, distal postural, proximal postural) and diagnosis (ET, PD). An independent examiner provided tremor scores using randomized videotaped footage of 19 ET and 10 PD subjects at baseline and at follow-up with DBS "on." Subjects provided self-ratings of disability at baseline and at follow-up. Comparisons of baseline and follow-up tremor scores and disability ratings were made using the Mann-Whitney U and Wilcoxon rank sum W test; correlation analyses were performed using Spearman rank order correlation test. There were significant and essentially equal improvements in tremor scores of test, kinetic, distal postural, and proximal postural tremor at follow-up. Only one subject had no improvement in tremor. Tremor improved significantly and to the same extent in ET and PD subjects in each position except "at rest," which was most improved in PD (p = 0.0003). ET and PD subjects did not differ in the extent of disability improvement. Improved disability correlated only with improved postural tremor scores; proximal postural and distal postural (r = 0.41, p = 0.03; r = 0.47, p = 0.01). DBS is effective in alleviating tremor and disability in both ET and PD. Resting, kinetic, distal postural, and proximal postural tremor can be reduced to an equal degree. However, DBS produces the greatest improvement in disability in association with improved postural tremor in both ET and PD.
Assuntos
Estimulação Elétrica , Doença de Parkinson , Tálamo , Tremor/terapia , Adolescente , Adulto , Idoso , Avaliação da Deficiência , Eletrodos Implantados , Seguimentos , Humanos , Pessoa de Meia-Idade , Resultado do Tratamento , Gravação de VideoteipeRESUMO
Investigators are beginning to reexamine the use of vitamin E for the treatment of amyotrophic lateral sclerosis. Vitamin E was isolated in the 1920s, and the results of animal studies led rapidly to clinical use. Regrettably, vitamin E did not ameliorate the progression of amyotrophic lateral sclerosis for Lou Gehrig, but more recent advances may identify subpopulations that do respond to vitamin E.
Assuntos
Esclerose Lateral Amiotrófica/história , Vitamina E/história , Esclerose Lateral Amiotrófica/tratamento farmacológico , Beisebol/história , Pessoas Famosas , História do Século XX , Humanos , Estados Unidos , Vitamina E/uso terapêuticoRESUMO
The DNA test for Huntington's disease simplifies diagnosis, but does not eliminate clinical and ethical issues. Records of 80 consecutive patients who had testing were reviewed; 54 had a positive result. We present seven examples of the variety of problems disclosed by our review. Among the issues that remain unsettled are: (1) Who should do needed counseling and how much? (2) When, if ever, is presymptomatic testing for this incurable disease indicated? (3) Should the patient have access to information about the length of repeats, as the age of onset is affected by the length of repeat? (4) Is it true that insurance companies or relatives have no right to learn the results of DNA testing on a patient?
Assuntos
Análise Mutacional de DNA , Ética Médica , Aconselhamento Genético/psicologia , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Adulto , Feminino , Humanos , Doença de Huntington/psicologia , Masculino , Pessoa de Meia-IdadeRESUMO
Visual hallucinations, without auditory hallucinations and in the elderly, are not usually based on previous psychiatric illness. The elderly can, of course, hallucinate as part of severe depression or a life-long schizophrenia, but the clinician should assume that there is an organic basis when an elderly individual begins to develop visual hallucinations for the first time. Representative cases that illustrate visual hallucinations due to ophthalmological, vascular, or degenerative processes are presented. Visual hallucinations can be linked to disorders in multiple parts of the nervous system. Even when related to medications, dementia may also be contributory, as is illustrated by the hallucinations seen in those with Parkinson's disease. Treatment of visual hallucinations is treatment of the underlying cause although some newer drugs such as clozapine may also be helpful for selected patients.
Assuntos
Idoso/psicologia , Alucinações/etiologia , Transtornos Mentais/complicações , Transtornos da Visão/etiologia , Alucinações/fisiopatologia , Humanos , Transtornos da Visão/fisiopatologiaRESUMO
OBJECTIVE: To determine factors that are predictive for the development of hallucinations associated with Parkinson disease (PD). BACKGROUND: Hallucinations are a common difficulty for patients with established PD, and hallucinations and psychosis may be the most common causes for nursing home placement. The characteristics of the hallucinations associated with PD differ from the hallucinations associated with schizophrenia or cocaine abuse. Multiple factors have been suggested as causal. DESIGN AND METHODS: A total of 214 consecutive patients were interviewed during routine visits to the Parkinson's Disease Clinics in Columbus, Ohio, and Miami, Fla, using a hallucination questionnaire, Folstein Mini-Mental State Examination, and an attempt to correlate age, duration of disease, medication, and psychological or sleep disorders with the hallucinations. RESULTS: Hallucinations were almost exclusively visual and were present in 55 of the 214 patients. Dementia, age, duration of disease, history of depression, or history of sleep disorder were strongly associated with the hallucinations. CONCLUSIONS: While reduction in levodopa and anticholinergic medication doses is appropriate in the management of hallucinations, the factors that predispose patients to hallucinations include dementia and advancing age. The phenomena of visual hallucinations associated with PD, while not fully explained, are unique enough to be of interest to all neurologists and neuroscientists.
Assuntos
Alucinações/etiologia , Doença de Parkinson/complicações , Idoso , Idoso de 80 Anos ou mais , Envelhecimento , Depressão/complicações , Feminino , Humanos , Masculino , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/psicologiaRESUMO
The increasingly recognized occurrence of dementia in Parkinson's disease (PD) has prompted study of cognitive evoked potentials in this disorder. The P300 wave is related to cognitive performance, while the contingent negative variation (CNV) may reflect dopaminergic function. We measured P300 and CNV in 21 nondemented PD patients and compared them to elderly controls. The P300 was recorded from Cz with linked ear reference. 3,000 and 1,000 Hz tones were presented in an 80:20 ratio at 76 dBSL interstimulus interval was 1.1 seconds, and filter bandpass was 1-100 Hz. CNV recording utilized a 2000 Hz tone followed after 1.5 seconds by a light flash and button press, and was recorded from Fz with linked ear reference, 10-second analysis time, and 0.1-20 Hz filter bond pass. N200 and P300 amplitudes were significantly longer and latency significantly lower in PD patients than in controls, and P300 latency was correlated with composite score on cognitive tests. CNV amplitude was significantly reduced in PD patients, but was correlated with measures of motor disability rather than cognition. These findings suggest that bradyphrenia may occur in nondemented PD patients, and that P300 may measure cognitive changes in PD. CNV may be a dopaminergic slow potential and may correlate with motor function in nondemented PD patients.
Assuntos
Potenciais Evocados P300/fisiologia , Doença de Parkinson/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Multiple sclerosis (MS) is among the most crippling diseases of the nervous system in young adults, and diagnosis can be difficult. It is true that MS can exist without magnetic resonance imaging or cerebrospinal fluid abnormalities, but whenever there are an atypical clinical pattern and no confirmatory laboratory tests, then "pseudo-MS" might be considered. Six cases of presumed pseudo-MS are reported. Psychologic treatment of these cases was unsatisfactory. Treatment in all such cases will be difficult, but more so when MS cannot be disproved and when the patient resists a psychogenic explanation for the symptoms.
Assuntos
Esclerose Múltipla/diagnóstico , Transtornos Somatoformes/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Esclerose Múltipla/psicologiaRESUMO
There are new concepts in headache definition and pathophysiologic characteristics, but both classification and management remain largely the responsibility of the principal care physician. Women are particularly vulnerable for some types of headache. When a woman needs medical help she usually turns to their personal physician, who can be expected to diagnose and successfully treat most headaches.
Assuntos
Cefaleia , Complicações na Gravidez , Adolescente , Adulto , Idoso , Criança , Emergências , Feminino , Cefaleia/complicações , Cefaleia/etiologia , Cefaleia/terapia , Humanos , Pessoa de Meia-Idade , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/terapia , Gravidez , Complicações na Gravidez/etiologia , Complicações na Gravidez/terapia , Cefaleia do Tipo Tensional/complicações , Cefaleia do Tipo Tensional/terapiaAssuntos
Atestado de Óbito , Doença de Parkinson/epidemiologia , Humanos , Incidência , Ohio , Estados UnidosRESUMO
Parkinson's disease (PD) patients report an increased craving for sweets, which may have an effect on microflora. We compared patients of PD who crave sweets with PD patients who do not. Age- and sex-matched control subjects were used, with 14 subjects in each group. A plaque sample was taken from tooth #18 with a curette and placed into RTF, homogenized, and plated onto selective and non-selective media. Microflora were expressed as % CFU's of total anaerobes. Statistical analysis was performed by ANOVA and Newman-Keuls on log-transformed data. No statistical difference was observed among the three groups for lactobacilli, bacteroides, fusobacteria, veillonella, and actinomyces. S. mutans was lower in controls than in PD patients. Apparently, the craving for sweets in PD patients does not result in a significant increase in % of total anaerobes of certain microflora. PD patients showed a significant increase in mucositis compared with the control groups.