Wilson's disease.
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Hepatolenticular Degeneration↗
Biomedical subjects
M Behari
Publications and source records attributed to M Behari.
Peripheral silent periods in essential tremor.
BACKGROUND: Pathophysiology of essential tremor (ET) is controversial. In the present study, peripherally induced silent period (SP) in ET patients is studied. AIMS AND OBJECTIVES: To study if the peripherally induced SP was different in ET patients as compared to age matched healthy controls. MATERIAL AND METHODS: 24 patients of ET diagnosed according to diagnostic criteria of Louis et al. [Neurology 50 (1998) 1351] (mean age 45.37+/-14.86 years) and an equal number of healthy controls (mean age 36.21+/-15.72 years) were recruited for the study. Peripherally induced SP was recorded according to the methods already described. Student's t-test and Wilcoxon sign rank test were used for statistical analysis. RESULTS: The peripheral SP was 50.29+/-50.15 and 93.04+/-35.93 ms (p=0.0014) in ET patients and controls respectively. CONCLUSION: Our study shows that peripheral silent period is shorter in patients of ET as compared to normal individuals.
Adult↗
Proton MR spectroscopy of basal ganglia in Wilson's disease: case report and review of literature.
Volume localized proton Magnetic Resonance Spectroscopy was carried out in both the left and right basal ganglia of three patients with clinically proven Wilson's Disease. While the untreated patient died 15 days after the spectroscopy study, the other 2 patients have been under treatment and have shown clinical improvement. The spectral features of the untreated patient were very different from those of the other two patients who were under treatment and responding. Asymmetrical changes in NAA and Cho were also observed for this patient.
Adolescent↗
An unusual case of paroxysmal kinesigenic dyskinesia.
Paroxysmal kinesigenic dyskinesia (PKD) is an uncommon neurological disorder characterised by abnormal episodic brief movements induced by sudden movements of the body. The recognition and understanding of this disorder has increased over the past few decades. While most cases are idiopathic, the association of PKD with various disorders, including metabolic abnormalities has also been reported. We report an interesting case of a 52 year old male who presented with PKD manifesting as subtle facio-brachial movements and apraxia of eyelid opening (ALO) secondary toidiopathic hypoparathyroidism.
Arm↗
Dystonia as presenting manifestation of ataxia telangiectasia : a case report.
Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.
Adolescent↗
Cerebral venous thrombosis in ulcerative colitis.
Cerebral venous thrombosis is a rare complication of ulcerative colitis. We report a case of 29 year old male who developed superior sagittal, left lateral and sigmoid sinus thrombosis secondary to ulcerative colitis. He was successfully treated with low molecular weight heparin and steroids.
Adrenal Cortex Hormones↗
Risk factors of Parkinson's disease in Indian patients.
Epidemiological data on risk factors of Parkinson's disease (PD) are not available from India. In a case control study, we investigated environmental and genetic risk factors in the etiology of idiopathic Parkinson's disease. Three hundred seventy-seven patients of Parkinson disease (301 men, 76 women, mean+/-SD age 56.78+/-11.08 years) and equal number of age matched (+/-3 years) neurological controls (271 men, 106 women, mean+/-SD age 56.62+/-11.17 years) were included in the study. Conditional logistic regression model was used to determine the risk factors of PD. We found that male gender, family history of Parkinson's disease, past history of depression of up to 10-year duration and well water drinking of more than 10-year duration were significantly associated with occurrence of Parkinson's disease, whereas tobacco smoking of up to 20-year duration and exposure to pets had protective effect. However, tobacco smoking of more than 20-year duration, well water drinking of up to 10-year duration, vegetarian dietary habit, occupation involving physical exertion, rural living, farming, exposure to insecticides, herbicides, rodenticides, alcohol intake and family history of neurodegenerative diseases had no significant correlation with occurrence of PD in the patient population studied. Results of our study support the hypothesis of multifactorial etiology of PD with environmental factors acting on a genetically susceptible host.
Age of Onset↗
Mutations in the alpha-synuclein gene in Parkinson's disease among Indians.
OBJECTIVE: To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the alpha-synuclein gene in Indian patients with Parkinson's disease (PD). METHODS: A total of 169 PD patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases were included in this study. Genomic DNA was amplified by PCR using primers specific for Exons 3 and 4. Mutations at G88C and G209A were screened following restriction enzyme digestion of the PCR product. Direct PCR product sequencing of entire exons 3 and 4 was carried out for at least one proband each from the 10 familial cases. RESULTS: Neither G88C and G209A mutations nor any other mutation in exons 3 and 4 was found in the PD patients analysed. CONCLUSION: The G88C and G209A mutations do not seem to be the predominant genetic determinant of PD among Indians.
Adult↗
Isolated angiitis of the central nervous system: report of a patient with an unusually prolonged course.
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Adult↗
Serum cobalamin levels in dementias.
The present study attempts to find a correlation between low serum B-12 levels and dementias. A total of 178 patients of dementia were seen at the cognitive disorder clinic from 1996 to 1998. Serum B-12 levels were studied in 100 patients. 15 patients (39.5%) of Alzheimer's dementia had reduced B-12 levels, while only 5 patients (13.9%) with vascular dementias and 3 patients (11.5%) with other types of dementias had reduced levels. The incidence of low serum B-12 was statistically significant in the Alzheimer's group when compared with the other groups, individually as well as combined together (p<0.05). The aetiopathogenesis and significance of these findings is discussed and the literature is reviewed.
Aged↗
Physician assisted suicide--the perspective of a neurologist.
Modern medicine has resulted in a better control and treatment of many diseases. This has provided a better life for patients with treatable disorders, but at the same times has prolonged the suffering of the patients with diseases that are not treatable. This is of particular importance for the patients with neurological diseases, as some of these conditions have a relentlessly progressive course and cause significant distress to the patient. Recent times have seen an expansion of the scope of the various "rights of the patient" and according to some, this includes the "right to die". As a result of this concept of regarding the autonomy of the patient, the phenomenon of physician assisted suicide has emerged and is a topic of intense debate amongst the physicians, social workers and politicians all over the world. The present article puts forth the current concepts and brings out the exact definitions of the terms like physician-assisted suicide, voluntary active euthanasia and voluntary passive euthanasia. It presents the statements made by the various societies and organisations regarding the PAS. It also brings forth the point of view of the authors about this aspect of medicine. The authors share the view of the various scientific organisations, and opine that though the idea of physician assisted suicide may be morally justifiable in certain circumstances, it should not be made legal.
Attitude of Health Personnel↗
Botulinum toxin: from toxin to therapeutic agent.
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Blepharospasm↗
Interictal brain 99m Tc-HMPAO SPECT study in cases of epilepsy with single ring enhancing CT lesion.
BACKGROUND: Contrast enhancing single ring or disc lesion (CESRL), a frequent finding in the CT scan of Indian patients with seizures, has a diverse etiology. Underlying cause in many of these cases remains conjectural. Some of these ring lesions show spontaneous resolution without any specific treatment and in others their temporal profile remains unpredictable. MATERIAL AND METHODS: In a prospective study we studied 17 cases of epilepsy, with the CT scan finding of single contrast enhancing ring lesion. Detailed clinical evaluation and interictal EEG was performed. CT scan and SPECT study was done initially and were then repeated. RESULTS: On the second CT, one lesion disappeared and 2 reduced in size, three showed no change in size. Third CT showed complete disappearance in one case and no change in the second case. Initial SPECT study was abnormal in all 17 cases, showing areas of hypoperfusion corresponding to the anatomical location of ring lesion. On follow up, patients with decreased ring size on CT showed decrease in area of perfusion deficit on the SPECT, but cases in which the lesion disappeared on the CT, the SPECT perfusion abnormality continued to persist, though to a lesser extent. CONCLUSION: Persistence of perfusion defects suggest the presence of altered underlying physiology. Hence, early withdrawal of antiepileptic drugs after disappearance of ring lesion on CT may lead to seizure recurrence. SPECT studies repeated after 3 months may help to prognosticate cases with CESRL and also help in deciding the optimum duration of antiepileptic therapy in individual cases.
Adolescent↗
Motor fluctuations in Parkinson's disease.
OBJECTIVES: To assess patterns, prevalence, and risk factors of motor fluctuations in an unselected population of Parkinson's disease patients attending Movement Disorders Clinic of a tertiary hospital. MATERIAL AND METHODS: Eighty patients with Parkinson's disease were interviewed and data about their clinical characteristics, motor fluctuations, i.e. dyskinesia, dystonia, motor blocks and details of drug therapy, were collected. RESULTS: Forty patients had at least one type of motor fluctuation. Twenty three patients had motor blocks, 20 had dyskinesia and 11 had dystonia. Interval between onset of symptom and start of levodopa therapy and duration of levodopa therapy correlated with presence of motor fluctuations in general and to dyskinesia in particular. Patients with dyskinesia had younger age of onset of disease. Motor blocks showed a positive relationship to duration of disease. CONCLUSIONS: Fifty percent of unselected patients of Parkinson's disease had motor fluctuations after a mean duration of 5 years of illness. Early initiation and longer duration of levodopa therapy were identified as risk factors for motor fluctuations. Younger patients had more risk of developing dyskinesias. Motor blocks were more common in patients with a longer duration of illness.
Adult↗
Risk factors for thrombosis in nonembolic cerebrovascular disease.
Thirty-seven young patients (less than 42 years of age) presenting with sudden onset of idiopathic nonembolic cerebrovascular disease were evaluated for underlying prothrombotic factors. Activated protein C resistance (APC-R) was measured by Dahlback's method and the modified method using factor V-deficient plasma. Activities of antithrombin (AT) III, protein C and S were measured. Anticardiolipin antibody was estimated by ELISA and lupus anticoagulant by kaolin clotting tests. APC-R was the most common defect (21.62%) followed by AT III deficiency and presence of anticardiolipin antibodies (5.6% each). The latter two were present together in one case. It is thus concluded that APC-R is the most common defect underlying idiopathic nonembolic cerebrovascular infarction in young individuals.
Activated Protein C Resistance↗
Specific muscle EMG biofeedback for hand dystonia.
Currently available therapies have only limited success in patients having hand dystonia (writer's cramp). We employed specific muscle EMG biofeedback (audio feedback of the EMG from proximal large muscles of the limb that show abnormally high activity during writing) in 10 of 13 consecutive patients (age, 19-62 years; all males) with a duration of illness from 6 months to 8 years. In three patients, biofeedback was not applicable due to lack of abnormal EMG values. Nine patients showed dystonic posture during writing and had hypertrophy of one or more large muscles of the dominant hand. The remaining four patients showed either involvement of small muscles or muscle wasting. Ten patients were given four or more sessions of EMG audio biofeedback from the proximal large limb muscles, which showed maximum EMG activity. They also practiced writing daily with the relaxed limb for 5 to 10 min. Nine patients showed improvement from 37 to 93% in handwriting, alleviation of discomfort, and pain (assessed on a visual analogue scale). One patient did not show any improvement. Thus EMG biofeedback improved the clinical and electromyographic picture in those patients with hand dystonia who showed EMG overactivity of proximal limb muscles during writing. This specific type of EMG biofeedback appears to be a promising tool for hand dystonia and might also be applied to other types of dystonias.
Adult↗
Activated protein C (APC) resistance in young stroke patients.
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Activated Protein C Resistance↗