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1.
Artículo en Inglés | IMSEAR | ID: sea-180734

RESUMEN

Background. Circadian rhythm sleep disorder–advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6.30–7 p.m. and waking up around 3–4 a.m. for the last 2 months. On detailed examination, the patient was observed to have symmetrical bradykinesia and cogwheel rigidity of limbs. A diagnosis of multiple system atrophy was made, supported by MRI findings and evidence of autonomic dysfunction. Symptoms of change in sleep–wake cycles resolved over the next 1 year, while the patient was treated with dopaminergic therapy. A 47-year-old man, who was being evaluated for presurgical investigation for refractory temporal lobe epilepsy, presented with complaints suggestive of dysarthria, bradykinesia of limbs and frequent falls for 5 months. Simultaneously, he began to sleep around 7 p.m. and wake up at about 2–3 a.m. Examination revealed severe axial rigidity, restricted vertical gaze and bradykinesia of limbs. A diagnosis of progressive supranuclear palsy was made. Conclusion. This is the first report of Parkinson’s plus syndromes presenting with a circadian rhythm sleep disorder– advanced sleep-phase type. More prospective assessment for circadian sleep disorders may introduce useful insights into similar associations. Natl Med J India 2015;28:233–5

2.
Artículo en Inglés | IMSEAR | ID: sea-158448

RESUMEN

Background & objectives: spinocerebellar ataxia 7 (SCA7) is a rare form of neurodegenerative disorder with the clinical manifestation of cerebellar ataxia and retinal degeneration. In this study we describe the clinico-genetic characteristics of nine SCA7 families of Indian origin and cross compare these with other available worldwide studies. Methods: Thirty five individuals from nine SCA7 families were clinico-genetically characterized and CAG repeat distribution analysis was carried out in 382 control DNA samples from healthy controls (derived from 21 diverse Indian populations based on ethnic and linguistic and geographical location). Results: Of the nine families studied, 22 affected individuals and one asymptomatic carrier were identified. The average age at disease onset was 23.4±12.6 yr. The length of expanded CAG ranged from 40-94 with mean value of 53.2±13.9. The main clinical findings in affecteds individuals included cerebellar ataxia, and retinal degeneration along with hyper-reflexia (95%), slow saccades (85%) and spasticity (45%). Analysis of the association of number of CAG repeats with disease onset revealed that <49 repeats were associated with earlier age at onset in South East Asians compared to European populations. Further analysis of CAG repeats from 21 diverse Indian populations showed pre-mutable repeats (28-34) alleles in the IE-N-LP2 population. Six of the nine families identified in this study belonged to the same ethnic population. Interpretations & conclusion: Our results show that presenece of SCA7 is relatively rare and confined to one ethnic group from Haryana region of India. We observed a homogeneous phenotypic expression of SCA7 mutation as described earlier and an earlier age of onset in our patients with CAG <49. The identification of pre-mutable allele in IE-N-LP2 suggests this population to be at the risk of SCA7.


Asunto(s)
Adulto , Anciano , Humanos , Estudios de Asociación Genética , Genotipo , India , Persona de Mediana Edad , Mutación , Población , Ataxias Espinocerebelosas/etnología , Ataxias Espinocerebelosas/genética , Expansión de Repetición de Trinucleótido/genética
3.
Indian J Ophthalmol ; 2014 May ; 62 (5): 538-544
Artículo en Inglés | IMSEAR | ID: sea-155623

RESUMEN

This review focuses on saccadic eye movement research in Parkinson’s disease (PD) patients. Results from various studies related to Parkinson disease and saccades have been discussed in terms of various saccadic parameters like latency, amplitude, velocity and gain. Neural circuitry of saccadic eye movements and cognitive processes and it’s relation with altered saccadic performance in Parkinson disease has been discussed here. This article also covers various research paradigms commonly used to study saccades. Eff ects of medication on saccadic parameters in PD patients have also been discussed along with the eff ects of deep brain stimulation of subthalamic nucleus on saccadic performance in PD patients. Literature review was done using online Pubmed search engine and National Medical Library.

4.
Artículo en Inglés | IMSEAR | ID: sea-148331

RESUMEN

This study was conducted to observe the impact of measles vaccination on the epidemiology of subacute sclerosing panencephalitis (SSPE) in the post measles vaccination era. This is a retrospective study from a tertiary care hospital, covering a ten year period starting a decade after the introduction of the national measles immunization programme in India. We analyzed 458 serologically confirmed SSPE cases. These patients had a high cerebrospinal fluid: serum anti-measles antibody ratio. The male to female ratio in the present study was 4.4:1. The mean age at onset of SSPE was 13.3 years, showing an increase in mean age at onset of SSPE. Clinical and other demographic details, available from 72 in-patients, are discussed in this report. Of these, a history of measles could be elicited in 34 cases. Mean latent period between measles infection and onset of SSPE was 7.8 years. Six patients gave a history of measles vaccination. A sizable percentage (15.5 %) of the patients was ≥ 18 years old and considered to have adult onset SSPE. The incidence of SSPE continues to be high and this report highlights the need for further strengthening routine measles immunization coverage.

5.
Neurol India ; 2006 Dec; 54(4): 399-401
Artículo en Inglés | IMSEAR | ID: sea-121128

RESUMEN

BACKGROUND: Monomelic amyotrophy (MMA) is a benign motor neuron disorder, which particularly affects young people and the etiology is still unknown. Gangliosides are located on the outer surface of motor neurons. Anti-GM1 antibodies have been found to be elevated in multi-focal motor neuropathy with conduction block and other neurological diseases, which may have therapeutic implication. AIM: To evaluate IgM anti-GM1 antibody titers in patients of monomelic amyotrophy. SETTING AND DESIGN: prospective controlled study. MATERIALS AND METHODS: Forty-six clinically and electrophysiologically diagnosed cases of MMA were assessed for IgM anti-GM1 antibody titers by enzyme-linked immunosorbent assay (ELISA) method and compared with titers in healthy controls, cases of amyotrophic lateral sclerosis (ALS) and acute inflammatory demyelinating polyneuropathy (AIDP). Titer of 800 units was taken as upper limit of normal (Buhlmann Laboratories AG, Switzerland). STATISTICAL ANALYSIS USED: one-way ANOVA. RESULTS: The mean age of 46 patients with MMA was 24.5 (+/- 7.3) years, with male female ratio of 44:2. The mean age of 19 healthy controls was 24.1 (+/- 3) years with male: female ratio of 18:1. Five (26%) individuals in the healthy control group, 22 (48%) patients of MMA, four (30%) of ALS and five (50%) of AIDP had high titers of IgM anti-GM1 antibody (P> 0.05). CONCLUSIONS: Although larger number of patients with MMA had higher IgM anti-GM1 antibody titers, the difference was not statistically significant from titers of healthy individuals and of patients in the ALS and AIDP group.


Asunto(s)
Adulto , Esclerosis Amiotrófica Lateral/inmunología , Anticuerpos/análisis , Electrodiagnóstico , Ensayo de Inmunoadsorción Enzimática , Femenino , Gangliosidosis GM1/inmunología , Síndrome de Guillain-Barré/inmunología , Humanos , Inmunoglobulina M/análisis , Masculino , Enfermedad de la Neurona Motora/inmunología , Estudios Prospectivos
6.
Artículo en Inglés | IMSEAR | ID: sea-119203

RESUMEN

BACKGROUND: Guillain-Barré syndrome is the most common cause of acute neuromuscular paralysis and is considered a post-infectious disease. METHODS: Twenty patients with Guillain-Barré syndrome admitted to the Neurosciences Centre at the All India Institute of Medical Sciences from November 1997 to August 1998 were investigated for evidence of antecedent infections. This case-control study included 2 controls for each patient, one a household control and the other an age- and sex-matched hospital control suffering from a neurological illness other than Guillain-Barré syndrome. Evidence of recent Campylobacter jejuni infection was investigated by culture and serology, and for Mycoplasma pneumoniae by serology. RESULTS: There was evidence of recent C. jejuni infection in 35% of the patients compared with 25% of household controls and none of the hospital controls. M. pneumoniae infection was seen in 50% of patients compared with 25% of household controls and 15% of hospital controls. About one-third of the patients (30%) had evidence of both infections. The association of both infections in patients was found to be statistically significant as compared to hospital controls. CONCLUSION: C. jejuni and M. pneumoniae may be important antecedent illnesses in patients with Guillain-Barré syndrome in India.


Asunto(s)
Adolescente , Adulto , Anciano , Infecciones por Campylobacter/complicaciones , Campylobacter jejuni/aislamiento & purificación , Estudios de Casos y Controles , Femenino , Síndrome de Guillain-Barré/complicaciones , Humanos , India , Masculino , Persona de Mediana Edad , Mycoplasma pneumoniae/aislamiento & purificación , Neumonía por Mycoplasma/complicaciones
7.
Neurol India ; 2006 Mar; 54(1): 33-7
Artículo en Inglés | IMSEAR | ID: sea-121203

RESUMEN

BACKGROUND: The effect of initiation of levodopa therapy on the memory functions in patients with Parkinson's disease remains poorly understood. AIMS: To evaluate the effect of initiation of levodopa therapy on memory, in patients with early Parkinson's disease. SETTINGS AND DESIGN: Prospective case control study. MATERIALS AND METHODS: Seventeen patients with early Parkinson's disease were evaluated for verbal memory using Rey's auditory verbal learning test, and visual memory using the Benton's visual retention test and Form sequence learning test. UPDRS scores, Hoehn and Yahr's Staging and Schwab and England scores of Activities of daily living. Hamilton's depression rating scale and MMSE were also evaluated. Six controls were also evaluated according to similar study protocol. Levodopa was then prescribed to the cases. Same tests were repeated on all the subjects after 12 weeks. RESULTS: The mean age of the patients was 59.8 (+ 12.9 yrs); mean disease duration of 3.26 (+ 2.06 yrs). The mean UPDRS scores of patients were 36.52 (+ 15.84). Controls were of a similar age and sex distribution. A statistically significant improvement in the scores on the UPDRS, Hamilton's depression scale, Schwab and England scale, and a statistically significant deterioration in the scores of visual memory was observed in patients with PD after starting levodopa, as compared to their baseline scores. There was no correlation between degree of deterioration and the dose of levodopa. CONCLUSION: Initiation of levodopa therapy in patients with early and stable Parkinson's disease is associated with deterioration in visual memory functions, with relative preservation of the verbal memory.


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antiparkinsonianos/uso terapéutico , Niño , Femenino , Humanos , Levodopa/uso terapéutico , Masculino , Memoria , Persona de Mediana Edad , Actividad Motora/fisiología , Enfermedad de Parkinson/tratamiento farmacológico , Selección de Paciente , Habla , Percepción Visual
8.
Neurol India ; 2006 Mar; 54(1): 48-50; discussion 51-2
Artículo en Inglés | IMSEAR | ID: sea-120605

RESUMEN

BACKGROUND: Homozygosity for MTHFR C677T polymorphism can lead to significantly high homocysteine levels and hyperhomocysteinemia is an important risk factor for thrombotic events. AIMS: The aim was to determine role of MTHFR C677T polymorphism in North Indians with ischemic stroke. SETTINGS AND DESIGN: In a prospective study, the subjects of stroke were recruited from the neurology clinic of the hospital. Controls were healthy individuals from the Hematology clinic without any history of stroke. MATERIALS AND METHODS: Plasma homocysteine levels were measured by enzyme immuno assay method after 3 months of acute episode. Serum folate and Vitamin B12 levels were estimated by competitive inhibition radioassay. MTHFR polymorphism was detected by PCR-RFLP using Hinf I enzyme. Statistical analysis: The analysis of significance of results was done using SPSS software package. A p-value. RESULTS: Thirty-two acute ischemic stroke patients (aged 1-44 years) were studied. Fourteen (43.8%) had recurrent stroke. Nine (28%) had multiple infarcts. Four of 32 patients (12.5%) had high homocysteine levels. Three out of these 4 hyper-homocysteinemia patients were homozygous ( TT ) for MTHFR polymorphism (2 with recurrent stroke). Two of three homozygous cases with TT genotype had low serum folate. Five of 32 stroke cases (18.8%) were heterozygous ( CT ) genotype. CONCLUSIONS: Primary hyper-homocysteinemia appears to be an important risk factor for ischemic stroke in North Indians, most due to MTHFR C677T homozygosity. Folate levels may modify the presentation of the MTHFR TT genotype.


Asunto(s)
Adolescente , Adulto , Isquemia Encefálica/enzimología , Niño , Preescolar , Femenino , Homocisteína/sangre , Humanos , Hiperhomocisteinemia/sangre , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/enzimología
10.
Neurol India ; 2004 Jun; 52(2): 200-2
Artículo en Inglés | IMSEAR | ID: sea-120503

RESUMEN

BACKGROUND: No Indian studies have focused on the clinical aspects of tremor. AIMS: To study the distribution of various etiological types of tremor disorders at a Movement Disorders clinic of a large, tertiary care hospital in India and to study the clinical characteristics of essential tremor [ET]. SETTING AND DESIGN: Prospective cross-sectional study at a tertiary care specialty clinic. MATERIAL AND METHODS: Patients presenting with tremor as the chief complaint, with no features suggestive of parkinsonism, cerebellar disorder or acute central nervous system disorder, were included. Patients were classified into different etiological categories from detailed history. All patients diagnosed as ET, were further interrogated for a detailed family history and examined for characteristics of tremor. These patients were then classified into 'definite', 'probable' and 'possible' ET. RESULTS: One hundred and six patients (mean age 44.4 + 15.1 years) were examined during the study period. ET (59.4%) and dystonic tremor (21.7%) were the commonest types. Only 43% patients of ET reported progression; response to alcohol was seen in only a single patient, a positive family history was present in 52.4% and in 36.4% the inheritance was of an autosomal dominant pattern. CONCLUSION: ET and dystonic tremor are the commonest causes of tremor presenting to a specialty Movement Disorders clinic. Most patients with ET have high-frequency tremor, with mild asymmetry in 40% cases. Alcohol responsiveness may not be a useful tool in the diagnosis of ET.


Asunto(s)
Adulto , Instituciones de Atención Ambulatoria , Estudios Transversales , Distonía/complicaciones , Temblor Esencial/epidemiología , Femenino , Humanos , Incidencia , India/epidemiología , Persona de Mediana Edad , Trastornos del Movimiento , Estudios Prospectivos , Temblor/epidemiología
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