A clinical profile of 103 patients with secondary movement disorders: correlation of etiology with phenomenology

Netravathi, M; Pal, Pramod; Devi, B Indira

doi:10.1111/j.1468-1331.2011.03469.x

Cited by 53 publications

(42 citation statements)

References 19 publications

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“…[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)…”

Section: Dystoniamentioning

confidence: 99%

Movement disorders: Indian scenario: A clinico-genetic review

et al. 2013

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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.

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Section: Dystoniamentioning

confidence: 99%

Movement disorders: Indian scenario: A clinico-genetic review

et al. 2013

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“…Various etiological factors have been described causing secondary MDs (SMDs) such as cerebrovascular disease,[1] space occupying lesions, trauma and infections. Netravathi et al [2] in their study had reported infectious causes representing up to 20.4% of all SMDs. [2] MDs secondary to infectious causes are diverse ranging from hypokinetic disorders such as parkinsonism (PAR)[34] to hyperkinetic disorders such as chorea,[56] dystonia,[7] tics,[5] tremor and myoclonus (MYO).…”

Section: Introductionmentioning

confidence: 99%

“…Apart from a large study on SMD[2] conducted at our center, most of the reports are limited to a single patient or a series of patients defining a particular infectious agent. The conclusions from these studies are varied and difficult to generalize.…”

Section: Introductionmentioning

confidence: 99%

Movement disorders of probable infectious origin

Jhunjhunwala

Netravathi

Pal

2014

Ann Indian Acad Neurol

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Background:Movement disorders (MDs) associated with infections remains an important debilitating disorder in the Asian countries.Objectives:The objective of the following study is to report the clinical and imaging profile of a large cohort of patients with MDs probably associated with infection.Materials and Methods:This was a chart review of 35 patients (F:M-15:20) presenting with MD in the Neurology services of National Institute of Mental Health and Neurosciences, India. The demographic profile, type of infection, time from infection to MD, phenomenology of MD and magnetic resonance imaging (MRI) findings were reviewed.Results:The mean age at presentation was 22.6 ± 13.3 years, (5-60), age of onset of MD was 15.7 ± 15 years, and duration of symptoms was 6.9 ± 8.1 years (42 days to 32 years). The mean latency of onset of MD after the infection was 5.9 ± 4.2 weeks. The phenomenology of MD were: (1) Pure dystonia-28.6%, (2) dystonia with choreoathetosis-22.9%, (3) Parkinsonism-14.6%, (4) pure tremor, hemiballismus, myoclonus and chorea-2.9% each, and (5) mixed MD-22.9%. Most often the MD was generalized (60%), followed by right upper limb (31.4%) and left upper limb (8.6%). A viral encephalitic type of neuroinfection was the most common infection (85.7%), which was associated with MD. Abnormalities of brain MRI, seen in 79.2%, included signal changes in (1) thalamus-52.0%, (2) putamen and subcortical white matter-16% each, (3) pons-12%, (4) striatopallidum, striatum and grey matter-8% each, and (5) caudate, cerebellum, lentiform nucleus, midbrain and subthalamic nucleus-4.0% each.Conclusions:MDs associated with infection were the most often post-encephalitic. Dystonia was the most common MD, and thalamus was the most common anatomical site involved.

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“…However, it is unclear how the interruption of WM function leads to atypical Parkinsonism. Nonetheless, Parkinsonian features occur in patients of vascular origin[2-4], in patients with traumatic etiology [5], in certain osmotic demyelinating syndromes such as central pontine and extrapontine myelinolysis [6], in various leukoencephalopathies including leukodystrophies and [7, 8], mitochondrial disorders [9], occasionally in neuroinflammatory diseases like multiple sclerosis [10], and in certain rare hereditary neurodegenerative conditions such as tremor-ataxia syndrome [11], spinocerebellar ataxia[12] and others. [13]…”

Section: Introductionmentioning

confidence: 99%

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

Sundal

Fujioka

Gerpen

et al. 2013

Parkinsonism & Related Disorders

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Atypical Parkinsonism associated with white matter pathology has been described in cerebrovascular diseases, mitochondrial cytopathies, osmotic demyelinating disorders, leukoencephalopathies including leukodystrophies, and others. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant disorder with symptomatic onset in midlife and death within a few years after symptom onset. Neuroimaging reveals cerebral white matter lesions that are pathologically characterized by non-inflammatory myelin loss, reactive astrocytosis, and axonal spheroids. Most cases are caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We studied neuropathologically verified HDLS patients with CSF1R mutations to assess Parkinsonian features. Ten families were evaluated with 16 affected individuals. During the course of the illness, all patients had at least some degree of bradykinesia. Fifteen patients had postural instability, and seven had rigidity. Two patients initially presented with Parkinsonian gait and asymmetrical bradykinesia. These two patients and two others exhibited bradykinesia, rigidity, postural instability, and tremor (two with resting) early in the course of the illness. Levodopa/carbidopa therapy in these four patients provided no benefit, and the remaining 12 patients were not treated. The mean age of onset for all patients was about 45 years (range, 18-71) and the mean disease duration was approximately six years (range, 3-11). We also reviewed HDLS patients published prior to the CSF1R discovery for the presence of Parkinsonian features. Out of 50 patients, 37 had gait impairments, 8 rigidity, 7 bradykinesia, and 5 resting tremor. Our report emphasizes the presence of atypical Parkinsonism in HDLS due to CSF1R mutations.

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A clinical profile of 103 patients with secondary movement disorders: correlation of etiology with phenomenology

Abstract: Our study highlights the spectrum of SMDs and the lack of correlation between types of SMDs and underlying etiologies. Preventable causes such as infections, HYP, trauma, and kernicterus still play a major role in pathogenesis of SMD.

Cited by 53 publications

References 19 publications

Movement disorders: Indian scenario: A clinico-genetic review

Movement disorders: Indian scenario: A clinico-genetic review

Movement disorders of probable infectious origin

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations

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