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| Year : 2013 | Volume
: 61
| Issue : 5 | Page : 457-466 |
Movement disorders: Indian scenario: A clinico-genetic review
Shyamal Kumar Das1, Bhaskar Ghosh2, Gautami Das3, Arindam Biswas4, Jharna Ray4
1 Department of Neurology, Burdwan Medical College, Burdwan, West Bengal, India
2 Department of Neurology, B R Singh Hospital and Center for Medical Education and Research, University of Calcutta, Kolkata, West Bengal, India
3 Department of Neurology, University of Pennsylvania, School of Veterinary Medicine, Philadelphia, USA
4 Department of Neurology, S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, West Bengal, India
| Date of Submission | 01-Oct-2013 |
| Date of Decision | 08-Oct-2013 |
| Date of Acceptance | 20-Oct-2013 |
| Date of Web Publication | 22-Nov-2013 |
Correspondence Address:
Shyamal Kumar Das
Q No. 31, Minto Park Government Housing, 247/1, A. J. C. Bose Road, Kolkata - 700 027, West Bengal
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.121908
Movement disorder (MD) is an important branch of neurology and has great potentiality in management because of improved diagnosis and therapeutic strategies. Over the last three decades, emphasis has been laid on the evaluation of various MDs in India by a limited number of interested neurologists and basic scientists. In this review, we want to highlight common problems of MDs in India with regard to epidemiology, clinical features and genetics.
Keywords: Movement disorders: Indian scenario: A clinico-genetic review
How to cite this article:
Das SK, Ghosh B, Das G, Biswas A, Ray J. Movement disorders: Indian scenario: A clinico-genetic review. Neurol India 2013;61:457-66 |
| » Introduction | |  |
Movement disorder (MD) is a forthcoming branch of neurology. MDs implies abnormal movement or paucity of movement either voluntary or automatic which is not attributable to weakness or spasticity or any other medical causes directly interfering musculoskeletal system, such as, advanced rheumatoid arthritis or slowing of medical condition like hypothyroidism. It has been broadly subdivided into two types: Hypokinetic and hyperkinetic MDs. Prototype of hypokinetic disorders are Parkinson's disease (PD) and Parkinsonism plus syndromes and that of hyperkinetic type is dystonia, chorea, ballism, athetosis, tics, tremor, myoclonus and stereotypes. In this review, the recent studies on epidemiology, clinical features and genetic aspects of major disorders have been highlighted. We have excluded cerebellar ataxia and less frequent disorders for limited space.
| » Epidemiology | | |
MD constitutes 3-8% of neurological disorders in India with a crude prevalence rate (CPR) varying from 31 to 45/100,000 above 60 years of age [1],[2] and they are more frequent in rural India. [3] Hospital based study has shown that MDs account for 20% of all neurological diseases. [4] Another study has revealed that out of 493 residents in elderly homes of one southern city, one-third were suffering from MDs comprising of 24% Parkinsonism, 4.5% essential tremors (ETs) while others were 4.2%. [5]
Viral encephalitis is an important cause of acute onset MD in India. In a study from north India, about one-third of encephalitic patients had MD. Japanese encephalitis (JE) was the infection in 67.6% of the cases. MD were common in males and frequent after JE having nigral involvement in magnetic resonance imaging (MRI). Often dystonia and Parkinsonism was co-associated and the presence of dystonia indicates worse outcome. [6] In another study of 1282 adult cases of JE from central India, dystonia was detected in 46% of cases. [7] A small study of 17 patients with oromandibular dystonia had 14 cases of JE and 3 cases of non-specific encephalitis. Their mean age was 14 years (2-53) and majority were women. Cranial MRI was abnormal in 13 patients and majority were in substantia nigra. Half of the cases improved within next 6 months. [8]
Cases of reversible Parkinsonism following organophosphorus exposure [9] and due to osmotic disequilibrium have also been documented from India. [10] Drugs are important cause of MD. In a MD clinic, the prevalence of drug-induced MD was 10.15%. Dyskinesia and dystonias were common and the drugs such as levodopa and trihexyphendiyl were commonly held responsible. [11]
| » Parkinson's Disease | | |
In community-based studies, CPR varied from 6 to 40/100,000 and age adjusted prevalence rate varied from 52.85 to 192/100,000 [Table 1]. [1],[12],[13],[14],[15],[16] As Parkinsonism is a disease of old age and life expectancy is gradually increasing in India, prevalence of the disease is expected to increase. Higher prevalence of PD among Parsi population is due to higher aged population when compared to national population [Table 1]. [12] However the prevalence of PD is lower than many Caucasian populations. [17] The possible causes may be due to younger population of India, possible existence of some protective environmental or ethnic factors. Lower prevalence is further endorsed by a community study, which also documented an age adjusted incidence rate of 5.71 (95% CI: 3.59-9.40), which is the lowest rate over the globe. Indians normally consume curcumin, a yellow curry powder, from early age and this may be one protective factor against developing PD as evident from animal studies [16] Two interesting studies from mixed Anglo-Indian population in India and another study from Bulgaria in Europe where migrated Gypsies from North India had documented lower frequency of PD when compared to native Caucasians. [5],[17] There were no comprehensive studies on Parkinsonism plus syndrome from India. | Table 1: The prevalence of Parkinson disease from different regions of India
Click here to view |
| » Risk Factors | | |
The risk factors reported from various case-control studies from India, male gender, family history of PD and ET, exposure to pesticide, herbicide and other toxins, rural and slum living, viral infections (JE), previous history of depression and depression of longer duration and hypertension were associated with increased risk of PD, while tobacco chewing, smoking and keeping pets have been found as protective factors. [16],[17],[18],[19],[20]
| » Mean Age, Survival and Mortality | | |
The mean age of the PD subjects (62.3 years) is lower in comparison to western reports by one decade. Average annual mortality rate was 2.89, which is comparable globally. [16] The mean age of survival time was 13.5 years and that of death was 71.31 years. [16]
| » Quality of Life (QOF) and Non-motor Symptoms (NMS) | | |
The NMS was almost universal in a study from south India and each having at least one NMS feature. [21] The severity of NMS was higher in women and had strong association with the severity of motor symptoms. NMS in the domain of cardiovascular, mood/cognition and perceptual problems were prominent in affected subjects when compared to control. [21] The stage and duration of the disease, financial insecurity impairs QOF however, family and community relation was preserved due to close family and social bonding among Indian. [22] Depression plays an important role in determining the disability and QOF among PD patients. [23]
With an increasing age, greater impairment in delayed memory and recognition task were noted among Indian patients. Increasing severity induces greater impairment in mental status, delayed recall and information. Lower education had worse influence in cognitive domain. [24] Another study has shown right hemispheric dysfunction among PD patients on neuropsychological evaluation. [25]
| » Essential Tremors | | |
This is one of the most common MDs in the community in our county and the first Indian data on ET is available from Parsi Community in Mumbai. The overall prevalence rate was 16.63/1000 populations and higher rate is due to higher aging population. [26]
In a community survey on heterogeneous population, prevalence rate was found to be 3.95/1000 (95% CI: 3.40-4.56). Although age-specific prevalence showed increasing rate but sex-specific prevalence did not differ. Risk of ET was higher among slumdwellers than non-slum population by 2.29 times. Family history was positive in about one-fifth of the cases. [27]
A clinic based study found 59.4% of patients suffered from ET. Only 43% patients reported progression; response to alcohol was seen in only one patient, positive family history was present in 52.4% and the inheritance was autosomal dominant pattern in 36.4%. [28] In this study, mean age was 44.5 ± 16.0 years and duration of symptoms was 5.3 ± 6.3 years. Subtype analysis of tremor showed ET (59.43%), dystonic and task specific (21.69%), psychogenic (13.20%), alcohol (1.88%), rubral, drug induced, thyrotoxic and physiological in 0.94% in each of these categories. Tremor is of fast frequency type and may be related to younger onset of sample population. Distribution of tremor was in hands (96.8%), followed by head (26.98%), voice (12.69%) and lower limbs (20.63%).
| » Dystonia | | |
A community study on dystonia from India has reported CPR of primary dystonias was 43.91/100,000 and age-standardized rate was 49.06. All cases were focal type and predominantly of limb (Writer's cramp) variety. [29] Mean onset of dystonias was earlier in women (43.5 years) when compared to men (46.6 years). The study on primary dystonia showed higher prevalence when compared with that of many studies globally and more cases of limb dystonias than blepharospasm and cervical dystonias in western reports. [29] A case control study of Meige's syndrome has shown the risk due to habitual chewing of tobacco and betel nuts among Indians. [30] Secondary dystonia was less common (CPR-11.45/100,000) and usually due to sequel to encephalitis, drug and stroke. [29] Clinic based study has shown infections, hypoxia, trauma and kernicterus as common causes of secondary dystonias. [31] Interestingly one patient with GCH1 mutation presented with dopa responsive truncal dystonia without any diurnal variation. [32]
| » Wilson Disease (WD) | | |
Many Indian data are available on WD. [33] In a WD clinic from South India, about 15-20 new cases are registered annually. [33] The clinical manifestations of WD are varied and challenging. In the cohort of 282 patients, WD is more common in male (male: female ratio, 2.28:1). Mean age of onset was 15.9 years. The mean duration of illness at the time of diagnosis was 28 months. Commonest clinical presentations were neurological (69.1%); followed by hepatic, (14.9%); hepato-neurologic, (3.5%); pure psychiatric, (2.4%); osseomuscular (2.1%); and ''presymptomatic,'' (5.3%). Presymptomatic patients and those with the hepatic form of WD were younger. In contrast, psychiatric forms were older than neurologic patients. Commonest neurologic manifestation was parkinsonism, (62.3%) followed by dystonia (35.4%), cerebellar, (28%), pyramidal signs (16%) chorea, (9%), myoclonus (3.4%); athetosis, (2.2%); and behavioral abnormalities (16%). All neurological patients had Kayser-Fleischer rings, whereas it was present in 86% of hepatic patients and 59% in pre-symptomatic patients. Positive family history was noted in 47% and consanguinity in 54%. Patients born of consanguineous parents had an earlier age of onset and shorter duration of illness before presentation. Serum ceruloplasmin was decreased in 93% and 24-h urinary copper excretion was increased in 70% of patients. Overall, 69% patients were on d-penicillamine therapy and (65%) on zinc sulfate therapy. Follow-up data of 80% of patients over 46 months, revealed improvement in 78%, unchanged in 9% and deterioration in 3%. About 10% patients died. A return to previous level of functioning is not universal. [34] Gabapentin has been useful in d-penicillamine induced status dystonia. [35]
A study from Eastern India with 34 children suffering from WD shows that the mean age of the children was 7.7 ± 2.13 years. About 78.2% of cases responded to medical treatment. [36] WD was diagnosed in 8.3% of cases from a large cohort of 491 epileptic patients and hence presentation with seizure needs to be considered for WD in India. Differentiation of white matter tracts from cortex may contribute for seizure in WD. [37]
MRI is frequently used in the evaluation of various extrapyramidal disorders. Among the plethora of MRI features in WD, only "face of the giant panda" sign has been recognized as the distinguishing characteristic for WD from other early onset extra pyramidal disorders which included Huntington's disease (HD), young-onset PD, mitochondrial disorders, Brain iron accumulation, non-Wilsonian hepatolenticular degeneration, toxic/metabolic disorder and others cases. [38]
Indian literature is not clear about the role of zinc as a monotherapy from the initiation of treatment of WD as there are reports of sustained improvement and deterioration following zinc therapy alone. [39],[40],[41] Interestingly long standing therapy with d-penicillamine did not cause neuromuscular abnormalities and 30 pregnancies involving 16 WD women had no teratogenicity on low dose d-penicillamine and zinc therapy. [40] A scale has been developed for monitoring progression and also for therapeutic interventions in patients with WD. [42]
| » Brain Iron Accumulation | | |
Brain iron accumulation or Hallervorden-Spatz disease is a rare autosomal recessive disorder that involves progressive extrapyramidal manifestations. Autosomal dominant form may also be available. Classical and atypical clinical presentations are known. The most common clinical presentation was limb or cranial onset progressive dystonia. The patients with early onset had more frequent truncal and axial dystonia, including retrocollis, oromandibular-facial dystonia and chorea, dysarthria, pyramidal signs, gait disturbance, cognitive impairment, delay in motor milestones, retinitis pigmentosa, optic atrophy, oculomotor abnormalities, positive family history and acanthocytosis. Although rare, cerebellar ataxia, behavioral abnormalities, Parkinsonism and apraxia of eyelid opening were exclusively seen in late onset patients. The present study highlights the heterogeneity of this disease entity in India and also describes certain unusual clinical features. [43]
| » Genetics of Movement Disorders | | |
Apart from WD, HD, etc., which are monogenetic disease, most of these diseases have complex etiology indicating the interaction of both genetic and environmental factors. However, recent evidences suggest that even the so called "monogenic diseases" can also have modifier loci. In this chapter genetics of few MDs including PD, Dystonia, WD and HD from India will be described. In addition to this review, Indian Genetic Disease Database release 1.0 (http: www.igdd.iicb.res.in) also covers 52 diseases with information on 5760 individuals carrying the mutant alleles of causal genes. [44]
| » Parkinson's Disease | | |
Eighteen genetic loci with 13 underlying genes have been identified till date for PD, however, only 6 genes [Alpha-synuclein (SNCA), Leucine rich repeat kinase-2 (LRRK2), Parkin, PTEN induced putative kinase 1 (PINK1), DJ-1, ATPase type 13A2 (ATP13A2)] could be conclusively proved to be causal towards the disease. [45] In India, candidate gene studies have been performed on SNCA, [46],[47] Parkin, [48],[49],[50],[51],[52] PINK1, [53] DJ-1, [54],[55] and LRRK2[47],[56],[57],[58],[59] only [Table 2], with the maximum study being reported on Parkin. Mutations reported in Parkin are highest, absent in SNCA and rare in DJ-1, PINK1 and LRRK2. The frequency of mutation in Parkin varies from 1.96% to 39.1% among Indians. | Table 2: Studies on different PARK loci for identification of pathogenic mutations among PD cases in India
Click here to view |
In India studies to understand the molecular basis of PD is rapidly getting pace. A number of association studies have been reported on the candidate [53],[60] as well as the susceptibility genes involved in dopamine metabolism, [61],[62],[63] xenobiotic metabolism, [64],[65] neuronal cytoskeletal stability [66],[67] etc., from different parts of India. Recent genome wide association studies on Asian and Caucasian populations have identified a number of associated genes in PD including ethnicity specific susceptible genes. [68],[69] Majority of the mutations in the autosomal recessively inherited PD genes have been identified in heterozygous condition and current studies now suggest that homozygous mutants have a more severe form of the disease, while heterozygous variants are in fact risk factors. Since copy number variations have been reported in SNCA and Parkin, therefore, gene dosage study should now be routinely done among the candidate genes. None of the candidate gene studies in PD have actually done gene dosage analysis except Chaudhary et al. 2006 in Parkin gene. [49]
| » Dystonia | | |
Until date 25 dystonia loci and 16 dystonia genes have been identified. Genetic study on dystonia in India is rare with only two report till date on DYT1 and GCH1 gene from the eastern Indian population. [70],[32] Several nucleotide variants were identified among which the Asp216His variant was found to be associated with primary dystonia. Interestingly, with increasing age at onset there was a caudal to rostral shift in the affected site among patients.
Dopa-responsive dystonia (DRD) is one such disease that can have overlapping disease phenotype with juvenile PD (JPD). It is mostly caused by autosomal dominant mutations in the GCH1 gene (guanosine triphosphate cyclohydrolase1) and on rare occasion by autosomal recessive mutations in the tyrosine hydroxylase or sepiapterin reductase genes. Three novel mutations in GCH1 gene have been found and represent 15.79% (3/19) of East Indian DRD patient cohort. [32] Since DRD and JPD often show several overlapping phenotypes, therefore future studies should focus on these two diseases to identify the underlying causal gene for the better management of the disease.
| » Wilson Disease | | |
WD is an autosomal recessive disorder results in copper accumulation in brain, liver and kidney. Mutations in copper transporting gene ATP7B and suspected modifiers ATOX1 and COMMD1 has been implicated for WD. The ATP7B comprised of 21 exons spanning ~ 80 kb on chromosome 13q14.3; with a 4.3 kb open reading frame encodes a protein of 1465 amino acid. About ~ 600 diseases causing mutations have been known to be associated with WD worldwide (www.wilsondisease.med.ualberta.ca). A total of 308 mutant chromosomes (ATP7B) were identified from four different geographical locations of India of which 86 are unique. The detailed mutation spectrum is presented in [Table 3] and [Table 4]. On screening ATP7B gene in 114 unrelated WD patients from eastern India, 17 mutations including five common mutations (p.Gly1061Glu, p.Tyr187Stop, p.Cys271Stop, p.Glu150His-fs and c. 1708-1G > C) were reported. [71],[72] This accounts for 44% of WD patients. [72] In addition a total of 23 and 22 mutations were identified from North and South Indian WD patients respectively. [73],[74],[75],[76] The mutational pattern of WD in western India identified 36 disease causing mutations among 52 patients, 14 of 36 being novel. Two mutations, p.Cys271Stop and p. Glu122fs accounted for ~ 40% of the WD in western India. The Cys271Stop was the most common mutation observed in Western India with an allelic frequency of 20.2%. [77]
It was observed from four population of India that the missense mutations account for 44% of the total mutations followed by insertion and deletion mutations. Of the mutations documented in India, c. 813C > A (p.Cys271Stop) is the most common (53/308; 17.2%). A total of 21 prevalent mutations have been found in Indian population; five each in northern, eastern and western Indian population and eight in southern Indian populations (one is common between eastern, southern and western population). COMMD1 screening in 109 WD patients identified a novel putative mutation (p.Thr174Met) in one patient with atypical features. This suggests that COMMD1 variants may not have any major contribution toward phenotypic heterogeneity observed in WD. [78] Screening of ATOX1 gene did not identify any nucleotide changes in ATOX1 gene.
| » Huntington's Disease | | |
HD is a progressive neurodegenerative autosomal dominant disorder, caused by an expansion of a polymorphic CAG repeats beyond 36 in exon 1 of huntingtin gene on chromosome 4. The CAG repeat varied from 41 to 56 in HD patients whereas in normal varied from 11 to 35. [79] The age at onset is inversely related to the number of CAG repeat in the expanded allele. In Indian populations, six CCG repeat allele has been reported including (CCG) 7 in 89.3% cases, (CCG) 10 in 10.7% cases and (CCG) 4 in one case. The variation in GluR6 and CCG repeats in the huntingtin gene might modify the age of onset of HD. [80] In a study of 30 HD families (19 from Southern India and 11 from Northern India) comprising 75 members were evaluated. The HD mutation did not show any significant association with either the (CCG) 7 or (CCG) 10 allele, while haplotype analysis suggested over representation of the 7-2-I (CCG-D4s127-del 2642 loci) haplotype in a subset of families and provides evidence for multiple and geographically distinct origins for the HD mutation in India. [81] The mutated huntingtin protein (htt) aggregates in nucleus. An impairment of proteasomal degradation pathway and autophagy has been implicated in HD.
| » Neurodegeneration with Brain Iron Accumulation (NBIA) | | |
NBIA is a rare, inherited, neurological MD. Before 2001, NBIA was called Hallervorden-Spatz disease. There are nine forms of NBIA currently identified and have separate symptoms and identifying markers [Table 5].
Pantothenate Kinase Associated Neurodegeneration is the most common form of NBIA. It is caused by the mutation in the PANK2 gene. Molecular studies revealed PANK2 mutations in 4 patients from Indian subcontinent (Indian and Pakistani). No identifiable genetic cause was found in PLA2G6 and FTL gene. [82]
We have tried to review recent Indian literature on MDs. Lot of scope of highlighting the heterogeneous presentations of various disorders, drug dosage required in controlling various disorders and side-effects needs to be looked for. We hope to see publication of more data from India in future with the advancement of technology and infrastructures.
| » References | | |
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[Table 1], [Table 2], [Table 3], [Table 4], [Table 5]
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