Oculofacial-skeletal myorhythmia in Whipple's disease.
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Face↗
Biomedical subjects
E D Louis
Publications and source records attributed to E D Louis.
Delayed-onset cerebellar syndrome.
BACKGROUND: Delayed-onset involuntary movements, including dystonia and myoclonus, have been reported after stroke or head trauma. Moreover, there have been reports of delayed-onset isolated intention tremor and, in several of these cases, gait ataxia. OBJECTIVE: To further define the clinical features of a delayed-onset cerebellar syndrome. DESIGN: Subjects with cerebellar tremor and either head trauma or stroke were identified using a computerized database, providing detailed demographic and clinical information of 4002 patients with involuntary movements other than Parkinson's disease seen at our center between 1983 and 1995. Medical records and videotaped neurological examinations were retrospectively reviewed. SETTING: The Center for Parkinson's Disease and Other Movement Disorders at Columbia-Presbyterian Medical Center, New York, NY. PATIENTS: Five patients with delayed-onset cerebellar syndromes. RESULTS: Five patients with stroke or head trauma developed a cerebellar syndrome 3 weeks to 2 years after the initial insult. The syndrome, characterized by intention tremor, ataxic dysarthria, nystagmus, dysmetria, dysdiadochokinesis, and gait ataxia, was progressive in at least one patient. In four patients, lesions were present on neuroimaging in the thalamus or brain stem (especially in the midbrain). CONCLUSIONS: A delayed-onset cerebellar syndrome may follow head trauma or stroke. The syndrome is sometimes progressive and often disabling. The delayed onset implies that the syndrome is not caused by the initial lesion itself but may be caused by development of post-synaptic supersensitivity or secondary reorganization of involved pathways.
Adolescent↗
Erb's explanation for the tendon reflexes. Links between science and the clinic.
OBJECTIVE: To determine whether 19th-century experimental neurophysiological concepts directly influenced Erb's initial explanation for the deep tendon reflexes (DTRs). BACKGROUND: There is extensive literature on the discovery of the clinical utility of the DTRs on the one hand and on the development of 19th-century experimental neurophysiological concepts and early scientific concepts of reflexology on the other. While it seems logical to assume that Erb's 1875 discovery of the clinical utility of the DTRs and his initial interpretation of the physiological meaning of heightened DTRs were grounded in some of these scientific concepts, the important link between the clinical and scientific realm has not, to our knowledge, been the subject of previous analysis. METHODS: Review of the 19th-century neurophysiological literature and translation of seminal manuscripts written by Erb in the years 1875 and 1876. RESULTS: The concepts of spinal inhibition and reflex action arose from 19th-century neurophysiological experimentation. Erb first described the term Patel-larsehnenreflex (patellar tendon reflex) in 1875, and his publications reveal clear insight into several fundamental scientific concepts, including spinal inhibition, the reflex arc, distinct motor and sensory neurons, and an excitomotor system in the spinal gray matter. CONCLUSION: While Erb's initial description and interpretation of the DTRs may be regarded as a fortuitous discovery by a keen clinical observer, on another level his observations were not made in isolation, but were based on his knowledge of the physiological work of the preceding decades.
History, 19th Century↗
Use of intrathecal baclofen in the treatment of patients with dystonia.
BACKGROUND: Continuous infusion of intrathecal (IT) baclofen is a highly effective standard therapy for severe spasticity of spinal origin. By contrast, there is limited clinical experience regarding the use of IT baclofen in treating patients with dystonia, and little is known regarding the indications for treatment, efficacy, and safety of IT baclofen in this disorder. OBJECTIVE: To study retrospectively the effects of IT baclofen in treating 25 patients with severe segmental or generalized dystonia. SETTING: Neurological Institute, Columbia-Presbyterian Medical Center, New York, NY. PATIENTS: Twenty-five patients with severe segmental or generalized dystonia that was refractory to oral medications underwent IT baclofen test dosing. In addition to dystonia, 17 patients had spasticity or painful spasms. Thirteen of 25 patients responded to the test doses of IT baclofen, according to unblinded neurological assessments that included the patient's subjective report; all 13 underwent implantation of a pump for continuous IT baclofen infusion. RESULTS: In contrast to reports of patients with spasticity of spinal origin, those with dystonia in the present series had a lower response rate to bolus IT baclofen doses and a smaller degree of clinical improvement. For 10 of the 13 responders to the test doses of IT baclofen, dystonia rating scale scores of videotaped examinations by blinded observers detected no significant change (P < .07) in severity of dystonia. Retrospective data from 11 of 13 patients with implantable pumps, followed up for a mean interval of 21 months after pump insertion, showed continuing efficacy in 6 individuals (55%), based on a determination of patient satisfaction; however, only 3 patients (27%) reported a sustained improvement in functional capacity. Five (38%) of the 13 patients with implantable pumps experienced severe complications that required hospitalization. CONCLUSIONS: Despite recent reports that have described the benefit in small numbers of patients with dystonia, we concluded that the role of IT baclofen in treating severe dystonia remains uncertain. Intrathecal baclofen may be more effective when dystonia is associated with spasticity or pain. In the present series, we detected no significant difference in the response to IT baclofen in patients with or without spasticity or pain, perhaps owing to the small sample size.
Baclofen↗
Motor neuron disease, lymphoproliferative disease, and bone marrow biopsy.
Some have suggested that nonfamilial motor neuron disease (MND) may be autoimmune, and the neurological disorder may benefit from immunotherapy. There have been reports of over 30 cases of lymphoproliferative disease (lymphoma, multiple myeloma, Waldenström's macroglobulinemia) with MND, and these patients might he offered immunosuppressive therapy. Bone marrow examination might increase the sensitivity of the diagnostic workup for lymphoma and other lymphoproliferative disorders. We examined the bone marrow in our first evaluation of 161 patients with MND seen at Columbia-Presbyterian Medical Center during 1991-1994. Four of 161 patients (2.5%) had lymphoproliferative disease in the marrow; only 1 of these had a monoclonal paraprotein. Routine bone marrow examination of patients with MND increases the diagnostic yield of lymphoproliferative diseases. The frequency of these bone marrow abnormalities in comparison with a group of age-matched control subjects should be studied further.
Adolescent↗
Diagnostic guidelines in central nervous system Whipple's disease.
Many cases of central nervous system (CNS) Whipple's disease are not diagnosed until postmortem. Few reviews of CNS Whipple's disease have delineated the frequencies of abnormalities on neurological examination, cerebrospinal fluid studies, neuroimaging, and intestinal biopsy studies. Guidelines for diagnosis and treatment have not been proposed. In this review we present 3 new cases of CNS Whipple's disease and summarize the literature to determine the frequencies of neurological signs and abnormalities on diagnostic testing. We propose guidelines for diagnostic screening, selection for biopsy, and treatment. Review of the 84 cases of CNS Whipple's disease (81 in the literature, 3 new) revealed that 80% of the patients had systemic signs. Cognitive changes were frequent (71%), and 47% with cognitive changes also had psychiatric signs. Oculomasticatory myorhythmia and oculo-facial-skeletal myorhythmia, pathognomic for CNS Whipple's disease, were present in 20% of patients, and were always accompanied by a supranuclear vertical gaze palsy. Tissue biopsy was a sensitive technique; 89% of those who had biopsies had positive biopsy results. Diagnosis and treatment of definite CNS Whipple's disease should be based on the presence of pathognomic signs (oculomasticatory myorhythmia or oculo-facial-skeletal myorhythmia) or positive biopsy or polymerase chain reaction results. Possible CNS Whipple's disease should be diagnosed in the setting of unexplained systemic symptoms and neurological signs (supranuclear vertical gaze palsy, rhythmic myoclonus, dementia with psychiatric symptoms, or hypothalamic manifestations). Those with possible CNS Whipple's disease should undergo small-bowel biopsy.
Anti-Bacterial Agents↗
Prevalence of a history of shaking in persons 65 years of age and older: diagnostic and functional correlates.
The purpose of this study was to determine the prevalence and functional and diagnostic correlates of reported shaking in the community-dwelling elderly. We conducted a standardized neurological evaluation of 1,056 nondemented Medicare recipients in Washington Heights-Inwood, Northern Manhattan (New York). Of 1,056 patients, 108 reported shaking (10.2%). The prevalence of reported shaking did not increase with age. It did differ between ethnic groups, but when adjusted for depression and score on the Schwab and England Activities of Daily Living (ADL) scale, this difference was insignificant. The age-adjusted prevalence was similar for women and men. Neurological examination of the 108 who reported shaking showed that 8.3% had tremor at rest, 17.6% had tremor with action, 5.6% had dyskinesia or chorea, and an additional 28.7% had various problems in coordination or movement. The remaining 39.8% had neither tremor nor problems in coordination or movement. Only 2.9% of individuals with reported shaking had Parkinson's disease (PD), 8.7% had essential tremor, and 2.1% had oral-buccal-lingual dyskinesia. Of the remaining 86.3%, 29 (31%) had no identifiable medical condition. Those who reported shaking were less independent with ADLs, regardless of presence of tremor on examination. Shaking is commonly reported by the community-dwelling elderly. It does not necessarily identify individuals with essential tremor and PD, and is related to decreased independence in ADLs.
Activities of Daily Living↗
Reliability of patient completion of the historical section of the Unified Parkinson's Disease Rating Scale.
Evaluating the reliability of self-assessed disability in patients with Parkinson's disease (PD) is important for therapeutic trials epidemiologic surveys. This is the first study to examine the interrater reliability between physician and patient in the historical section of the Unified Parkinson's Disease Rating Scale (UPDRS). Thirty consecutive subjects with idiopathic PD self-administered the historical section of a modified UPDRS. This instrument was then readministered to these 30 subjects by a neurologist. Interobserver reliability was assessed with the weighted kappa statistic (kw). The kw for each of the 17 items in the historical section of the UPDRS ranged from 0.63 to 1.0 (moderate to excellent agreement). Total kw = 0.83 (95% confidence interval = 0.79-0.87). There were no correlations between kw and age, disease duration, dose of levodopa, Hoehn and Yahr score, Schwab and England score, or modified Mini-Mental State score. Nondemented subjects with PD may reliably assess their level of disability by self-administering the historical section of the UPDRS. This has important implications for the reliable use of self-administered disability instruments for clinical research.
Activities of Daily Living↗
Prevalence of focal dystonias in the western area of Tottori Prefecture in Japan.
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Asian People↗
Oral and genital pain syndromes in Parkinson's disease.
Painful sensory complaints are known to occur in Parkinson's disease, but painful oral or genital syndromes have not been described. We report seven individuals with presumed idiopathic Parkinson's disease and one with atypical parkinsonism who experienced chronic severe oral or genital pains that appeared to be examples of a primary sensory disturbance related to the underlying parkinsonism. In each case, the pain syndrome overshadowed the other features of the parkinsonism. Five patients experienced oral pain and three patients, all women, had genital pain. No other definable organic cause was detected to explain the symptoms in any case. The genital pain tended to fluctuate in severity with the motor manifestations of the parkinsonism and could be abolished or reduced by levodopa. The recognition of painful oral or genital sensations in patients with parkinsonism should lead to further study regarding the prevalence, neurochemical basis, and treatment for these disabling symptoms.
Aged↗
How familial is familial tremor? The genetic epidemiology of essential tremor.
Essential tremor (ET) is commonly assumed to be partly genetic. This is due to a seemingly excess aggregation within certain families. There are many families containing more than one member with ET, and some large kindreds with multiple affected individuals. Despite this, the proportion of ET cases with affected family members is not known. Estimates vary from 17 to 100%. Additionally, none of the published studies employed control subjects. Therefore, it is unknown to what extent ET aggregates within families beyond that expected by chance, and the importance of genetic susceptibility in the etiology of ET at the population level has not been established. Additionally, whether or not some clinical subtypes of ET are more likely than others to be influenced by genetic susceptibility is unclear. Some studies suggest that early-onset ET may be familial, although increased awareness and earlier recognition of symptoms is an issue. Although many data support the view that ET susceptibility is inherited in an autosomal dominant manner, most studies are kindreds or service-based studies that might favor selection of families with apparent autosomal dominant modes of inheritance. One community-based study suggested an autosomal dominant mode of inheritance, but this has not been confirmed in studies of more heterogeneous populations. Further understanding of the extent of familial aggregation, extent of genetic heterogeneity, and mode of inheritance is essential for clinical counseling and for further research aimed at localizing and identifying susceptibility genes.
Disease Progression↗
Psychiatric features in diffuse Lewy body disease: a clinicopathologic study using Alzheimer's disease and Parkinson's disease comparison groups.
We conducted a retrospective study to determine the frequency of depression, hallucinations, and delusions in patients with diffuse Lewy body disease (DLBD) and to compare these findings with those in Alzheimer's disease (AD) and Parkinson's disease (PD). One hundred twelve subjects were included in the study. Of these, 28 subjects were diagnosed with DLBD, 58 with AD, and 26 with PD at autopsy. Main outcome measures included the percentages of subjects in each of the three categories in whom depression, hallucinations, or delusions were reported at any time during the course of the illness. Hallucinations and delusions were further classified by type. We found that depression was more common in DLBD (50.0%) than in AD (13.8%) (chi 2 = 13.00, p = 0.0003). There was no difference in the frequency of depression in DLBD and PD (57.7%) (chi 2 = 0.32, p = 0.57). Hallucinations were reported more frequently in DLBD (60.7%) than in AD (34.5%) (chi 2 = 5.30, p = 0.021). There was no difference in the frequency of hallucinations in DLBD and PD (53.8%) (chi 2 = 0.26, p = 0.61). Delusions were more common in DLBD (57.1%) than in PD (15.4%) (chi 2 = 10.08, p = 0.0015). There was no difference in the frequency of delusions in DLBD and AD (53.4%) (chi 2 = 0.10, p = 0.75). There was a male predominance of DLBD cases and PD cases; AD cases were predominantly women. We conclude that psychiatric features are very common in DLBD and should be a central diagnostic criterion for the disease.
Aged↗
Pathologically diagnosed diffuse Lewy body disease and Parkinson's disease. Do the parkinsonian features differ?
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Age of Onset↗
Anticonvulsant hypersensitivity syndrome.
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Anticonvulsants↗
Differences in the prevalence of essential tremor among elderly African Americans, whites, and Hispanics in northern Manhattan, NY.
BACKGROUND: Until now there has been only one community-based study to examine interethnic differences in the prevalence of essential tremor (ET). The study suggested a higher prevalence among whites than African Americans. The present study is the first to examine differences in the prevalence of ET among Hispanics, African Americans, and whites. OBJECTIVE: To estimate the prevalence of essential tremor (ET) in a cohort of community-dwelling elderly of mixed ethnic background. METHODS: A random sample of 2117 Medicare recipients residing in Washington Heights-Inwood in northern Manhattan, NY, were interviewed. A standardized neurological assessment was performed on those who had neurological complaints and on a random sample of those who did not. Essential tremor was defined as a postural or kinetic tremor of the head or limbs. Diagnoses were independently confirmed by two neurologists based on videotaped examination. RESULTS: After age adjustment to the 1990 Washington Heights-Inwood census, the prevalence of ET was 40.2 per 1000 (95% confidence interval, 31.8 to 48.6). Among 46 cases with ET, ET was significantly more prevalent in men than in women (chi 2 = 5.0, P = .03). Prevalence increased significantly with age. The prevalence was higher in whites than African Americans. The prevalence in Hispanics was intermediate. CONCLUSION: The prevalence of ET increases with age and may be higher among men and whites. Prospective studies are needed to further examine these associations.
Black or African American↗
Parkinsonian features of eight pathologically diagnosed cases of diffuse Lewy body disease.
Premortem diagnosis of diffuse Lewy body disease (DLBD) is difficult, and knowledge of the parkinsonian features of DLBD might facilitate the diagnosis. In this study, we compared the parkinsonian syndrome of DLBD and Parkinson's disease (PD). We retrospectively reviewed the charts of Columbia-Presbyterian Medical Center (CPMC) Brain Bank cases (1989-1993) with pathologically diagnosed DLBD or PD, and the literature on the parkinsonian features in DLBD patients presenting with parkinsonism. Parkinsonism accompanied or preceded cognitive/psychiatric changes in most CPMC cases (DLBD 100%, PD 88%). DLBD had an earlier mean age of onset than PD did (57 versus 64 years), a similar male:female ratio (1.7:1 versus 1.9:1), and similar mean disease duration (12-13 years). Cognitive/psychiatric changes were less frequent in PD than in DLBD (65 versus 100%) (p = 0.025). Rest tremor was specifically mentioned in 29% of DLBD versus 56% of PD (p = 0.10). Bradykinesia was less common in PD (56% versus 86%) (p = 0.05). All those with PD responded to L-Dopa, as did all those with DLBD who received L-Dopa. In conclusion, there are subtle differences between PD and DLBD in age of onset, frequency of cognitive/psychiatric changes, bradykinesia, and rest tremor. However, even when taken together, these cannot be used to distinguish these entities.
Age of Onset↗
Generalized chorea in an infant with semilobar holoprosencephaly.
We report chorea in an infant with holoprosencephaly. Congenital structural brain disease has not been a reported cause of chorea. Cranial magnetic resonance imaging revealed small, fused frontal lobes with hypoplastic caudates. Our patient responded to symptomatic treatment with dopamine-depleting agents. It is likely that the mechanism for the chorea was a dysfunction of the striatum. The differential diagnosis of childhood chorea should include holoprosencephaly.
Child, Preschool↗
Catatonia mimicking nonconvulsive status epilepticus.
Nonconvulsive status epilepticus (NCSE) and catatonia share many clinical features and distinguishing between them on the basis of the physical examination may be difficult and even impossible. Although several reports have been made of NCSE simulating catatonia, there are no published cases of catatonia mimicking NCSE. We report a 24-year-old woman whose initial examination was notable for a fixed stare, no response to voice or command, gaze preference, tonic head posturing, constant stereotypic chewing movements, profuse foamy salivation, and dramatic response to the parenteral administration of benzodiazepines (BZDs). She was initially misdiagnosed as having NCSE. EEG, however, was normal. We believe this is the first published report of catatonia simulating NCSE. The EEg may be more useful than the clinical examination in distinguishing NCSE from catatonia.
Adult↗