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  Access statistics : Table of Contents
   2020| January-April  | Volume 3 | Issue 1  
    Online since April 1, 2020

 
 
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REVIEW ARTICLES
Parkinson’s disease rating scales: a literature review
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):3-22
DOI:10.4103/AOMD.AOMD_33_19  
A scale is critical for an objective and standardized process in which the purpose involves measuring differences between various individuals and determining priorities such as primary treatment goals. The aim of this study was to describe and analyze the most common Parkinson’s disease (PD) scales already used for research and clinical practice. We searched three databases in an attempt to locate existing scales about PD published until 2017 in electronic form, only the articles in English, Spanish, and Portuguese were reviewed. In sum, 114 scales were evaluated and divided into 6 types representing a general evaluation, such as staging, health-related quality of life, evaluation of the impact on activities of daily living, loss of functionality aimed at evaluation of the signs and symptoms of the disease, evaluation of functioning and disability loss, and other specific evaluations. Other specific evaluations include the following: fear of falling, depression, psychosis, sleep, apathy and anhedonia, anxiety, dysautonomia, dyskinesia, fatigue, motor fluctuations, psychosocial problems, secondary levodopa effects, Scales for Outcomes in Parkinson’s disease (SCOPA) studies, and cognitive impairment screening. When required, more specific characteristics of each scale were included: time to apply, the number of items, advantage, and disadvantage. In the literature, there are a large number of scales, but the majority of them were created for other diseases and only later studied for PD. Also, more than half have only a small number of studies with psychometric evaluation and others can be used for only a specific portion of the general population due to their specific feature assessment or language availability.
  5,724 170 -
CRISPR/Cas9 technology in neurological disorders: An update for clinicians
Vishnu Swarup, Vikas Kumar, Mohammed Faruq, Himanshu N Singh, Inder Singh, Achal K Srivastava
January-April 2020, 3(1):23-32
DOI:10.4103/AOMD.AOMD_39_19  
Gene therapy has proven its potential in treatment of several human diseases. Most recent method in a long line of genome-editing techniques is Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) system. This CRISPR–Cas9 technology uses a ribonucleic acid (RNA)-guided deoxyribonucleic acid (DNA) endonuclease, Cas9, which induces double-strand breaks (DSBs) in target site. These DSBs are repaired by various cellular DNA repair mechanisms leading to changes in target sites. This revolutionary technique has unraveled several mysteries not only in pathogenesis of several human diseases but also proved its high potential in developing disease models ranging from cell lines to large animals. The number of neurodegenerative disorders linked with mutations has been increasing every day. Several such monogenic disorders provide opportunities for gene therapy using CRISPR–Cas9 method. Translational gap toward developing highly precise and personalized medicine for several neurodegenerative disorders has been reduced by CRISPR–Cas9 technology. Recent advancements in this technique have reduced the adverse effects on targets also. In this review, we have summarized recent achievements of CRISPR–Cas9 technology in common neurological disorders aiming clinicians to understand the technology.
  3,954 246 -
ORIGINAL ARTICLES
A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center
Manjunath Mahadevappa, Nitish Kamble, DV Santhosh Kumar, Ravi Yadav, M Netravathi, Pramod Kumar Pal
January-April 2020, 3(1):33-38
DOI:10.4103/AOMD.AOMD_28_19  
INTRODUCTION: Ataxia telangiectasia (AT) is an autosomal-recessive disease, characterized by progressive cerebellar degeneration, mucocutaneous telangiectasia, immunodeficiency, recurrent sinopulmonary infections, sensitivity to radiation, and increased risk of malignancy. The objective of this study was to report the clinical profile of a large cohort of patients with AT seen in a tertiary care referral center. METHODS: This study was a chart review of 100 patients with AT seen by the department of neurology at the National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India, which is a tertiary care referral center. Detailed demographic, clinical, laboratory, and electrophysiological data were collected from the case records. RESULTS: The mean age of presentation was 9.04 ± 3.52 years. Females (n = 40) had earlier age of presentation (8.87 ± 3.09 years) when compared to males (9.15 ± 3.80 years). The mean age for onset of illness was 3.9 ± 2.84 years, and the mean duration of illness was 4.81 ± 3.30 years. A positive family history was obtained in 20% and consanguinity in 60%. Oculomotor abnormalities included impaired pursuit and slow saccades in 60%, oculomotor apraxia in 84%, and nystagmus in 23%. All the patients had cerebellar ataxia. Extrapyramidal features such as dystonia, choreoathetosis, tremors, and myoclonus were observed in 31% of patients. CONCLUSION: Progressive cerebellar ataxia and telangiectasias were the consistent findings observed in all our patients. Dystonia and chorea were the other extrapyramidal features observed. Owing to increased risk of malignancies, screening should be an integral part of management.
  2,276 139 -
Uses of botulinum toxin in the management of patients with movement disorders: a national survey from India
Ashwin K Panda, Sanjay Pandey
January-April 2020, 3(1):39-43
DOI:10.4103/AOMD.AOMD_2_20  
Objective: The aim was to assess the opinion of the movement disorder society of India members regarding the uses of botulinum toxin in clinical practice. Methods: We developed an online questionnaire covering different aspects of botulinum toxin uses. The questionnaire was sent by email to all members of the movement disorder society of India. Results: A total of 50 members completed the survey (20%) representing different regions of the country. The average doses of botulinum toxin conform to those mentioned in the literature. Only type A botulinum toxin is available in India. Electromyography was used by 72% of the respondents, however, only 12% of respondents used ultrasonography for muscle localization during botulinum toxin injection. 72% of respondents were using an assessment scale for different types of movement disorders. 76% of the respondents reported adverse effects in their clinical practice, with weakness (69.11%) being the most common. 56% of the respondents reported challenges during the injections with the cost of botulinum toxin being the most common (36%) followed by difficulty in localization of muscles (30%). Conclusion: Our results seem to show that in India, the routine use of botulinum toxin in clinics is far from standardized. Low uses of USG, difficulty in muscle localization and cost of the toxin were important limitations highlighted by the respondents.
  1,174 125 -
EDITORIAL
Ataxia telangiectasia in India—Identifying the hidden glacier
Rukmini M Kandadai, Rupam Borgohain
January-April 2020, 3(1):1-2
DOI:10.4103/AOMD.AOMD_3_20  
  905 128 -
CASE REPORTS
Steroid responsive catatonia: A case of Hashimoto’s encephalopathy
Ritu Shree, Govind Madhaw, Rajat Manchanda, Divya M Radhakrishnan, Niraj Kumar
January-April 2020, 3(1):51-55
DOI:10.4103/AOMD.AOMD_32_19  
Hashimoto’s encephalopathy (HE) commonly presents with two types of neurological presentation: recurrent stroke-like episodes or seizures and progressive cognitive decline. Being a treatable disorder, one cannot afford to miss the diagnosis. We report a female with HE who presented with a history of recurrent episodes of catatonia, recovering completely with steroids. The diagnosis of the primary disease got delayed for 5 months. HE presenting as catatonia has been reported rarely. A high degree of suspicion in appropriate clinical settings, resulting in early diagnosis, is rewarding as HE usually show good response to corticosteroids.
  653 75 1
Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
Pooja Sharma, Raja G Shaikh, Uzma Shamim, Vaishakh Anand, Biswaroop Chakrabarty, Sheffali Gulati, Akhilesh K Sonakar, Istaq Ahmad, Ajay Garg, Achal K Srivastava, Mohammed Faruq
January-April 2020, 3(1):60-64
DOI:10.4103/AOMD.AOMD_38_19  
DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner. The key clinical manifestations of DRPLA are ataxia, dementia, and myoclonic epilepsy and have variable association with intellectual disability, behavioral changes, epileptic seizures, and choreoathetosis. It is most commonly reported in Japanese population with a prevalence of 0.2–0.7/100,000. Here we report a three-generation first Indian family identified to carry a pathogenic CAG expansion in ATN1 and clinical features conformed to its key manifestations.
  503 78 1
Sudden jerky head movement in hypoglycemia
Vaishal S Shah, Vijay Sardana
January-April 2020, 3(1):44-46
DOI:10.4103/AOMD.AOMD_29_19  
Hypoglycemia is associated with adrenergic and various neurological symptoms including hemiparesis. Though not common, movement disorders such as chorea and ballism have been reported in hypoglycemia. This case was of an elderly lady, a known diabetic, who developed two episodes of hemiparesis and single episode of jerky head movement with preserved sensorium lasting for few seconds, associated with hypoglycemia on different occasions, 1 week after increasing the dosage of oral hypoglycemic agent with complete recovery each time with correction of sugar levels. Magnetic resonance imaging showed transient bilateral diffusion restriction in posterior limb of internal capsule.
  465 73 1
Unilateral Holmes tremor associated with compression of the brainstem by an ectatic vertebral artery
Shweta Prasad, Vikram V Holla, Dhruv Batra, Pramod K. Pal
January-April 2020, 3(1):56-59
DOI:10.4103/AOMD.AOMD_37_19  
Lesions affecting the Guillain–Mollaret triangle usually lead to palatal or oculopalatal tremors and occasionally Holmes tremors (HTs). We report two cases of unilateral HT without palatal tremor, secondary to brainstem compression by an ectatic vertebral artery. Unilateral HT may occur due to compression of the inferior olivary nucleus by an ectatic vertebral artery. This cause should be explored in patients who lack other obvious causes for tremor.
  335 75 -
Cervical and axial dystonia secondary to mirtazapine: a case report and literature review
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):47-50
DOI:10.4103/AOMD.AOMD_30_19  
Mirtazapine (MTZ) is an atypical antidepressant frequently prescribed for the management of major depressive disorder. It has multiple mechanisms of action, which probably contribute to the several side effects encountered with this medication. Hyperkinetic movement disorders induced by MTZ have been rarely reported in the literature. To the best of authors’ knowledge, there are five cases of dystonia (DTN) secondary to MTZ use, but this study reports the youngest individual in a nonpsychiatric MTZ indication. We report a case of an adult woman who presented with axial and cervical DTN-type laterocollis after 5 days of MTZ use, which was indicated for hot flashes. A comprehensive review of the cases and a mechanism assumption are performed.
  350 49 1
LETTERS TO THE EDITOR
Mirtazapine for the treatment of psychosis in Parkinson’s disease: Any silver linings?
Abhishek Lenka
January-April 2020, 3(1):69-70
DOI:10.4103/AOMD.AOMD_9_20  
  292 42 -
Dystonia and adrenoleukodystrophy: an overview
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):65-66
DOI:10.4103/AOMD.AOMD_34_19  
  250 48 -
The role of mirtazapine in the management of psychosis in Parkinson’s disease
N Uvais
January-April 2020, 3(1):67-68
DOI:10.4103/AOMD.AOMD_8_20  
  212 47 -