Uday Muthane

Uday Muthane
NIMHANS &Parkinson & Aging Research Foundation, Bangalore, INDIA · Neurology

DM Neurology

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73
Publications
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Introduction

Publications

Publications (73)
Article
Mutations in 2 genes, vacuolar protein sorting homolog 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1), have been recently reported as causal in autosomal dominant Parkinson's disease (PD) among Caucasians. Their contribution to PD in other ethnic groups remains limited with 1% of VPS35 mutations observed in Caucasian and...
Article
Full-text available
Huntington's disease is characterized by choreic movements, psychiatric disorders, striatal atrophy with selective small neuronal loss, and autosomal dominant inheritance. The genetic abnormality is CAG expansion in Huntingtin gene. Newer therapeutic strategies are evolving to treat this progressive disorder. The neuroprotective agents are one such...
Article
Full-text available
Background: Restless Legs Syndrome (RLS) is associated with impaired central dopaminergic neurotransmission. Though a link between RLS and parkinsonism has been proposed, the prevalence of RLS in parkinsonian disorders is poorly documented. Objective: To determine the prevalence of RLS in patients with Parkinson's Disease (PD), Progressive Supra...
Article
Pesticide/neurotoxin/free radical-induced oxidative stress leading to dopaminergic neuronal vulnerability is known to promote sporadic Parkinson's disease (PD). This study investigated the contribution of polymorphisms in genes from drug-metabolizing enzymes (DMEs) and the oxidative stress pathway to PD susceptibility and severity among a north Ind...
Chapter
Orthostatic hypotension (OH) in Parkinson's disease (PD) is more common than previously perceived, as it may appear to cause no symptoms, or may result in complications from hypotension, such as falls, often being erroneously attributed to other causes. OH may be an initial sign of sympathetic failure, as commonly occurs in multiple system atrophy...
Article
Full-text available
Dopaminergic neurons die in Parkinson's disease (PD) due to oxidative stress and mitochondrial dysfunction in the substantia nigra (SN). We evaluated if oxidative stress occurs in other brain regions like the caudate nucleus (CD), putamen (Put) and frontal cortex (FC) in human postmortem PD brains (n = 6). While protein oxidation was elevated only...
Article
Can dysautonomic symptoms occurring within a year of developing motor symptoms distinguish Multiple system atrophy-Parkinsonian (MSA-P) from Parkinson's disease (PD)? Seventy-two Parkinsonian patients diagnosed as probable PD or MSA-P. PD (n = 58, 80.6%) and MSA (n = 14, 19.4%) patients were of similar age and had motor symptoms for similar duratio...
Article
Accumulating evidences suggest that dopaminergic neuronal loss in the substantia nigra pars compacta (SNpc) during ageing and in Parkinson's disease (PD) is linked to neurodegenerative changes like exponential increase in alpha-synuclein expression and protein misfolding. Lewy body formation is also a quintessential observation in neurodegeneration...
Article
Genetic and non-genetic components are believed to govern the etiology of common complex traits such as Parkinson's disease (PD). In view of the biochemical evidence of depleted dopamine levels in the affected brains and also the most common and effective therapeutic modality of administration of levodopa in PD, genes from the dopaminergic pathway...
Article
Glial derived neurotrophic factor (GDNF) protects dopaminergic nigral neurons and may prevent the progression of age-related motor deficits and Parkinson's disease. The multi-component receptor complex which mediates the neuroprotective action of GDNF comprises of GDNF receptor alpha1 (GFRalpha1), a ligand binding cell surface component and RET rec...
Article
Full-text available
One hundred and eighty-one parkinsonian patients were evaluated to determine if urogenital symptoms at presentation to the Neurology clinic can differentiate them as PD or MSA-P. An autonomic questionnaire was used to document urinary and genital symptoms. Mean age at presentation and disease duration in PD and MSA-P were similar. Urinary symptoms...
Article
We interviewed 50 Parkinson's disease (PD) patients using a questionnaire to verify the reliability of orthostatic symptoms in warning the presence of orthostatic hypotension (OH). OH is defined as 20 mm Hg systolic or 10 mm Hg diastolic BP fall within 3 min of tilting or standing but if this fall occurs after 3 min we called it 'late OH' (L-OH). W...
Article
Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to bioti...
Article
Age-related loss of melanized nigral neurons reported in the British Caucasians is not observed in Asian Indian, American and French adults. In the Americans, loss of dopaminergic phenotype occurs from midlife, without frank neurodegeneration. Here, we investigated whether nigral dopaminergic neurons in Asian Indians are lost with age or undergo mo...
Article
Full-text available
The elderly population in developing countries is likely to increase by 200-280%. Age related diseases like Parkinsonism are also likely to increase in ageing population. The prevalence and awareness of Parkinsonism (and possible PD) amongst them are unknown. The objective was to know the awareness and occurrence of Parkinsonism (and possible PD) i...
Article
Full-text available
Improving economy and health in developing countries like India, has increased the life span and changed the emphasis from communicable to noncommunicable diseases. This is likely to increase the prevalence of movement disorders and, age-related diseases like Parkinson's disease (PD). We review Indian epidemiological studies to describe: a) Prevale...
Article
Mercury toxicity causes postural tremors, commonly referred to as "mercurial tremors," and cerebellar dysfunction. A 23-year woman, 2 years after injecting herself with elemental mercury developed disabling generalized myoclonus and ataxia. Electrophysiological studies confirmed the myoclonus was probably of cortical origin. Her deficits progressed...
Article
Full-text available
We present a report on an 18-year-old boy with Niemann-Pick disease Type C (NP-C) who presented with progressive decline in scholastic performance since 9 years of age. At 12 years, he developed abnormal behavior and after 2 years had insidious onset, progressive gait ataxia and dysarthria followed by dystonia of the right upper extremity, excessiv...
Article
Primary cardiac lymphoma is extremely rare in immunocompetent patients. Clinical manifestations vary, and, most often, diagnosis is not made until autopsy. The majority of reported primary cardiac lymphoma cases have been of B-cell origin, while T-cell cardiac lymphomas have been extremely rare. Occasionally, lymphomas and other systemic malignanci...
Article
Genetic counseling for individuals undergoing presymptomatic testing is lacking in India although testing is easily available. This has an impact on family members of Huntington's disease (HD), an autosomal dominant disease, wherein the age at onset of symptoms varies. We examine if attitudes differ towards presymptomatic testing for HD amongst HD...
Article
Recent discovery of pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene in Parkinson's disease (PD) patients in different ethnic groups have raised a hope of diagnostic screening and genetic counseling. We investigated the six most commonly reported mutations in LRRK2 gene among Indian PD patients, using PCR-RFLP method. Mutations...
Article
Full-text available
The depletion of dopamine levels in the brain due to degeneration of dopaminergic neurons of substantia nigra pars compacta is a hallmark of Parkinson's disease (PD). The cumulative contribution of genetic variations in genes from the dopaminergic pathway has been widely implicated to confer susceptibility to idiopathic PD. We present in this paper...
Article
Medicines and surgical interventions improve the quality of life of Parkinson's disease (PD) patients. These are still expensive options and are unaffordable to those living in developing countries. Managing PD in Indians who have a low annual gross national income (GNI; 450-540 US dollars) and for whom only a few (3%) have health insurance is a ch...
Article
The role of genetic and environmental factors in etiopathogenesis of Parkinson's disease (PD) is debated. The prevalence of PD is higher among white than nonwhite populations, yet it is five times higher in nonwhites living in the United States than in Nigeria. We compare counts of melanized nigral neurons between neurologically normal Nigerians an...
Article
Full-text available
DNA damage has been postulated as a mechanism of neuronal death in Parkinson's disease (PD). In the present study, genomic DNA was isolated from eight brain regions (frontal, temporal, and occipital cortex, hippocampus, caudate/putamen, thalamus, cerebellum, and midbrain) from five neuropathologically confirmed cases of Parkinson's disease and six...
Article
We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with...
Article
The prevalence of Parkinson's disease (PD) is low among Indians, except in the Parsis. Data for Indians come from studies using different screening tools and criteria to detect PD. An epidemiological study in India, which has nearly a billion people, more than 18 spoken languages, and varying levels of literacy, requires development and validation...
Article
To investigate the association of (i) seven SNPs and SNP haplotypes in the phase II conjugating enzyme N-acetyl transferase 2 gene; and (ii) slow acetylator phenotype, with the development of young onset (YO) and late onset (LO) Parkinson's disease (PD) among Indians. A total of 267 cases (132 YOPD, age at onset < or =40 years; 135 LOPD, age at ons...
Article
Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. Patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and review of reports between 1981 and Octob...
Article
Task-specific dystonia significantly impairs the performance of approximately 8% of musicians [Lederman RJ. Muscle Nerve 2003;27:549-561]. We describe hand dystonia in two professional musicians experienced while playing tabla, a percussion instrument.
Article
Botulinum toxins are, as a group, among the most potent neuromuscular toxins known, yet they are clinically useful in the management of conditions associated with muscular and glandular over-activity. Botulinum toxins act by preventing release of acetylcholine into the neuromuscular junction. While botulinum toxin type A is commonly available, diff...
Article
We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early-onset, dopa-responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early-onset dopa-responsive parkinsonism without ataxia develop dyskinesias within a...
Article
To understand the population variation and haplotypes of Huntington's disease (HD) in India we have analysed CAG repeats at the HD locus together with closely linked polymorphisms in both HD patients and normal controls. The CAG repeat and linked polymorphisms were analysed in 30 Indian HD families together with 250 ethnically matched controls usin...
Article
We studied whether the occurrence of Parkinson's disease (PD) in the Anglo-Indians, an admixed population of European and Asian Indian origin, differs from Indians living in the same environment. Epidemiological studies show considerably higher prevalence of PD amongst white compared to non-white populations. Normal Indians contain a approximately...
Article
Botulinum toxins are, as a group, among the most potent neuromuscular toxins known, yet they are clinically useful in the management of conditions associated with muscular and glandular over-activity. Botulinum toxins act by preventing release of acetylcholine into the neuromuscular junction. While botulinum toxin type A is commonly available, diff...
Article
The treatment of patients with Parkinson’s disease (PD) in India is full of challenges. In addition to the usual questions one would ask when treating a patient with PD or parkinsonism in the west, an Indian neurologist has many others. What is the occupation of the patient? Is he or she covered by medical insurance? Is the patient the breadwinner...
Article
Clonidine, a centrally active α2-adrenoreceptor agonist used to lower blood pressure, has been proposed to differentiate central from peripheral autonomic deficits and multiple system atrophy (MSA) from untreated idiopathic Parkinson's disease (IPD). A lack of growth hormone (GH) increase after clonidine infusion is found in patients with MSA, but...
Article
The authors report on movement disorders that persist for a long duration following Japanese encephalitis (JE). Fifteen patients with diagnosed JE were followed up after an interval of 3 to 5 years. Of the four patients with a movement disorder, two were children with severe generalized dystonia in whom MRI revealed bilateral thalamic lesions. The...
Article
Background: Clinical data across the globe especially in genetic diseases like Huntington's disease (HD) is most helpful when collected using standardized formats. This helps in proper comparison of clinical and genetic data. Methods: Herein, we report clinical data on 26 genetically confirmed HD patients from 19 Indian families predominantly fr...
Article
Parkinson's disease (PD), a common, neurodegenerative disorder, has a worldwide distribution. The genetic basis of PD is not well understood, although some recent leads have emerged. Epidemiological studies suggest that there is significant variation in the prevalence of PD between different populations and rates are highest in populations of Europ...
Article
Full-text available
We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. Magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of pro...
Article
We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. Magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of pro...
Article
The prevalence of Parkinson's disease (PD) is higher in whites than in nonwhites and it increases with advancing age. The pathological hallmarks of PD are loss of pigmented neurons in the substantia nigra pars compacta (SNpc) and presence of Lewy bodies. With increasing age, a similar loss of pigmented neurons in the SNpc has been reported. Hence,...
Article
It is controversial if early onset Parkinson's disease (EOPD) (onset at < 41 years of age) is Parkinson's disease (PD) occurring at a younger age or a different disease. This controversy is due to some clinical and pathological differences between EOPD and PD. Within EOPD, there appear to be two groups namely: young onset Parkinson's disease (YOPD)...
Article
Intermediate syndrome (IS) developed in 38 of 214 cases with organophosphorous compound poisoning (OPCP). Neck muscle weakness, motor cranial nerve palsy, respiratory muscle paralysis, proximal limb weakness were the chief neurological signs developed 16-120 hours after consumption of the insecticide. Two patients had pyramidal tract signs. Mean du...
Article
The present study demonstrates that the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) causes significantly greater reductions in striatal dopamine levels in C57/bl mice than in CD-1 mice, thus confirming a greater sensitivity of the C57/bl mice to MPTP. To determine the possible reasons for this difference in MPTP sensitivity betwe...
Article
We report on a patient with acute intermittent porphyria (AIP) who, during treatment with hypertonic glucose, developed peripheral neuropathy. Once haeme-arginate was started, the progression of the neuropathy was attenuated. This suggests that hypertonic glucose may be inadequate in preventing the development of neuropathy in a patient with porphy...
Article
Parkinson's disease (PD) is characterized mainly by a loss of nigrostriatal dopamine neurons. Thus far, the actual physiopathology of PD remains uncertain, although recent studies have found decreased activity of complex I, one of the enzymatic units of the mitochondrial respiratory chain, in various tissues of PD patients. Because most, if not all...
Article
Adenosine receptor antagonists, DMPX, PACPX and theophylline, produce contralateral rotations in unilateral 6-hydroxydopamine-lesioned rats. DMPX and theophylline markedly increase rotations produced by bromocriptine (a dopamine D2 receptor agonist) and/or SKF38393A (a dopamine D1 receptor agonist). All of these effects are inhibited by CGS21680C (...
Article
We studied visual (VEP) and brainstem auditory (BAEP) evoked potential changes in 23 patients with early onset Parkinson's disease (EOPD) to establish the nature of the changes as well as their relationship to dopaminergic (DA) and serotonergic (5-HT) disturbances, as determined by cerebrospinal fluid levels of homovanillic acid (HVA) and 5-hydroxy...
Article
We evaluated, by using electrophysiological techniques, 29 patients with juvenile Parkinson's disease (JP), who had no known causes or clinical signs of neuropathy. Electromyographic evidence of chronic partial denervation with reinnervation was observed in nine patients (34.6%). Abnormalities of motor conduction in the common peroneal nerve were p...

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