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  1. Article ; Online: Electrophysiology in Functional Movement Disorders: An Update.

    Kamble, Nitish / Pal, Pramod Kumar

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2023  Volume 13, Page(s) 49

    Abstract: Background: Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal ... ...

    Abstract Background: Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that are an important tool in the evaluation of FMDs.
    Methods: We searched the database platforms of MEDLINE, Google scholar, Web of Sciences, Scopus using the Medical Subject Heading terms (MeSH) for all the articles from 1st January 1970 till November 2022. A total of 658 articles were obtained by the search mechanism. A total of 79 relevant articles were reviewed thoroughly, of which 26 articles that had electrophysiological data were included in the present review.
    Results: Variability, distractibility and entertainability can be demonstrated in functional tremors by using multichannel surface electromyography. Voluntary ballistic movements tend to decrease the tremor, while loading the tremulous limb with weight causes the tremor amplitude to increase in functional tremor. Presence of Bereitschaftspotential demonstrates the functional nature of palatal tremor and myoclonus. Co-contraction testing may be helpful in differentiating functional from organic dystonia. The R2 blink reflex recovery cycle has been found to be abnormally enhanced in organic blepharospasm, whereas it is normal in presumed functional blepharospasm. Plasticity is found to be abnormally high in organic dystonia and normal in functional dystonia, in addition to enhanced facilitation in patients with organic dystonia.
    Conclusions: Electrophysiological tests supplement clinical examination and helps in differentiating FMD from organic movement disorders.
    MeSH term(s) Humans ; Tremor ; Myoclonus/diagnosis ; Dystonia ; Blepharospasm ; Movement Disorders/diagnosis ; Dystonic Disorders/diagnosis ; Electrophysiology ; Conversion Disorder
    Language English
    Publishing date 2023-12-26
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.793
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Abnormal cortical excitability in patients with spinocerebellar ataxia type 12.

    Bhattacharya, Amitabh / Stezin, Albert / Kamble, Nitish / Bhardwaj, Sujas / Yadav, Ravi / Pal, Pramod Kumar

    Parkinsonism & related disorders

    2024  Volume 120, Page(s) 106002

    Abstract: Background: Spinocerebellar ataxia type 12 (SCA-12) is an uncommon autosomal dominant cerebellar ataxia characterized by action tremors in the upper limbs, dysarthria, head tremor, and gait ataxia. We aimed to evaluate the motor cortical excitability in ...

    Abstract Background: Spinocerebellar ataxia type 12 (SCA-12) is an uncommon autosomal dominant cerebellar ataxia characterized by action tremors in the upper limbs, dysarthria, head tremor, and gait ataxia. We aimed to evaluate the motor cortical excitability in patients with SCA-12 using transcranial magnetic stimulation (TMS).
    Methods: The study was done in the department of Neurology at the National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore. Nine patients with SCA-12 (2 females) and 10 healthy controls (2 females) were included in the study. TMS was performed in all the subjects and various parameters such as resting motor threshold (RMT), central motor conduction time (CMCT) and contralateral silent period (cSP) were recorded. The left motor cortex was stimulated and the recording was done from right first dorsal interossei muscle. The severity of ataxia was assessed using the scale for assessment and rating in ataxia (SARA).
    Results: The mean age of the patients was 58.11 ± 7.56 years mean age at onset: 51.67 ± 4.18 years. The mean duration of illness was 9.44 ± 4.88 years. The mean SARA score was 13.83 ± 3.60. Patients with SCA-12 had significantly increased RMT (88.80 ± 12.78 %) compared to HC (44.90 ± 9.40 %, p < 0.05). A significantly prolonged CMCT was observed in patients (13.70 ± 2.52 msec) compared to HC (7.31 ± 1.21 msec, p < 0.05). In addition, cSP was significantly increased in SCA-12 patients (144.43 ± 25.79 msec) compared to HC (82.14 ± 28.90 msec, p < 0.05).
    Conclusions: Patients with SCA-12 demonstrate a reduced cortical excitability and increased cortical inhibition suggesting an increase in the GABAergic neurotransmission.
    MeSH term(s) Female ; Humans ; Middle Aged ; Aged ; Evoked Potentials, Motor/physiology ; India ; Spinocerebellar Ataxias ; Cerebellar Ataxia ; Tremor/etiology ; Transcranial Magnetic Stimulation ; Cortical Excitability ; CME-Carbodiimide/analogs & derivatives
    Chemical Substances 1-cyclohexyl-3-(2-(4-morpholinyl)ethyl)carbodiimide (15580-20-8) ; CME-Carbodiimide (2491-17-0)
    Language English
    Publishing date 2024-01-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2024.106002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.

    Holla, Vikram V / Gurram, Sandeep / Kamath, Sneha D / Kamble, Nitish / Yadav, Ravi / Pal, Pramod Kumar

    Movement disorders clinical practice

    2024  

    Language English
    Publishing date 2024-01-20
    Publishing country United States
    Document type Case Reports
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13963
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Impact of Non-Motor Symptoms on Quality of Life in Patients with Early-Onset Parkinson's Disease.

    Patwardhan, Ameya / Kamble, Nitish / Bhattacharya, Amitabh / Holla, Vikram / Yadav, Ravi / Pal, Pramod Kumar

    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

    2024  , Page(s) 1–10

    Abstract: Background: Early-onset Parkinson's disease (EOPD) refers to patients with Parkinson's disease (PD) whose age at disease onset is less than 50 years. Literature on the non-motor symptoms (NMS) in these patients is very limited in the Indian context. We ... ...

    Abstract Background: Early-onset Parkinson's disease (EOPD) refers to patients with Parkinson's disease (PD) whose age at disease onset is less than 50 years. Literature on the non-motor symptoms (NMS) in these patients is very limited in the Indian context. We aimed to study the NMS in patients with EOPD and its impact on the quality of life (QoL).
    Methods: We included 124 patients with EOPD with a mean age at disease onset between 21 and 45 years and 60 healthy controls (HC). NMS were assessed using validated scales, and the QoL domains were evaluated using the PD QoL-39 scale (PDQ-39).
    Results: The mean age at disease onset in EOPD patients was 37.33 ± 6.36 years. Majority of the patients were male (66.12%). The average disease duration was 6.62 ± 5.3 years. EOPD patients exhibited a significantly higher number of NMS per patient (7.97 ± 4.69) compared to HC (1.3 ± 1.39;
    Conclusions: Our study provides valuable insights into the NMS profile and its impact on QoL in patients with EOPD, addressing an important knowledge gap in the Indian context. By understanding the specific NMS and their influence on QoL, healthcare professionals can develop targeted interventions to address these symptoms and improve the overall QoL.
    Language English
    Publishing date 2024-01-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 197622-9
    ISSN 0317-1671
    ISSN 0317-1671
    DOI 10.1017/cjn.2023.336
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Impact of deep brain stimulation on non-motor symptoms in Parkinson's disease.

    Mishra, Tanaya / Kamble, Nitish / Bhattacharya, Amitabh / Yadav, Ravi / Srinivas, Dwarakanath / Pal, Pramod Kumar

    Journal of movement disorders

    2024  

    Language English
    Publishing date 2024-03-13
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 3021788-X
    ISSN 2093-4939 ; 2005-940X
    ISSN (online) 2093-4939
    ISSN 2005-940X
    DOI 10.14802/jmd.23247
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

    Katragadda, Pavankumar / Holla, Vikram V / Kamble, Nitish / Saini, Jitender / Yadav, Ravi / Pal, Pramod Kumar

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2024  Volume 14, Page(s) 10

    Abstract: Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in : Methods: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and ... ...

    Abstract Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in
    Methods: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented.
    Results: Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis.
    Discussion: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.
    MeSH term(s) Male ; Humans ; Young Adult ; Adult ; Middle Aged ; Aged ; Xanthomatosis, Cerebrotendinous/diagnosis ; Cholestanetriol 26-Monooxygenase/genetics ; Cholestanetriol 26-Monooxygenase/therapeutic use ; Retrospective Studies ; Xanthomatosis ; Cerebellar Ataxia ; Rare Diseases ; Cataract ; Parkinsonian Disorders
    Chemical Substances Cholestanetriol 26-Monooxygenase (EC 1.14.15.15)
    Language English
    Publishing date 2024-03-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.851
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Knowledge, attitude and perception of genetic testing in patients with movement disorders, their caregivers and health care professionals.

    Kamath, Sneha / Holla, Vikram V / Kamble, Nitish / Mahale, Rohan R / Yadav, Ravi / Pal, Pramod Kumar

    Journal of movement disorders

    2024  

    Language English
    Publishing date 2024-03-27
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 3021788-X
    ISSN 2093-4939 ; 2005-940X
    ISSN (online) 2093-4939
    ISSN 2005-940X
    DOI 10.14802/jmd.24034
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Haloperidol in managing DYT-TOR1A Dystonia: Unveiling a Dramatic Therapeutic Response.

    Katragadda, Pavankumar / Holla, Vikram V / Kamble, Nitish / Yadav, Ravi / Pal, Pramod Kumar

    Journal of movement disorders

    2024  

    Language English
    Publishing date 2024-04-09
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 3021788-X
    ISSN 2093-4939 ; 2005-940X
    ISSN (online) 2093-4939
    ISSN 2005-940X
    DOI 10.14802/jmd.24029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Long Latency Reflexes in Clinical Neurology: A Systematic Review.

    Dhar, Debjyoti / Kamble, Nitish / Pal, Pramod Kumar

    The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

    2022  Volume 50, Issue 5, Page(s) 751–763

    Abstract: Background: Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various neurological disorders from a systematic review of published literature.! ...

    Abstract Background: Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various neurological disorders from a systematic review of published literature.
    Methods: We reviewed the literature using appropriately chosen MeSH terms on the database platforms of MEDLINE, Web of Sciences, and Google Scholar for all the articles from 1st January 1975 to 2nd February 2021 using the search terms "long loop reflex", "long latency reflex" and "C-reflex". The included articles were analyzed and reported using synthesis without meta-analysis (SWiM) guidelines.
    Results: Based on our selection criteria, 40 articles were selected for the systematic review. The various diseases included parkinsonian syndromes (11 studies, 217 patients), Huntington's disease (10 studies, 209 patients), myoclonus of varied etiologies (13 studies, 127 patients) including progressive myoclonic epilepsy (5 studies, 63 patients) and multiple sclerosis (6 studies, 200 patients). Patients with parkinsonian syndromes showed large amplitude LLR II response. Enlarged LLR II was also found in myoclonus of various etiologies. LLR II response was delayed or absent in Huntington's disease. Delayed LLR II response was present in multiple sclerosis. Among the other diseases, LLR response varied according to the location of cerebellar lesions while the results were equivocal in patients with essential tremor.
    Conclusions: Abnormal LLR is observed in many neurological disorders. However, larger systematic studies are required in many neurological disorders in order to establish its role in diagnosis and management.
    MeSH term(s) Humans ; Myoclonus ; Huntington Disease ; Reflex/physiology ; Multiple Sclerosis ; Neurology ; Reaction Time/physiology ; Electromyography
    Language English
    Publishing date 2022-07-08
    Publishing country England
    Document type Systematic Review ; Journal Article
    ZDB-ID 197622-9
    ISSN 0317-1671
    ISSN 0317-1671
    DOI 10.1017/cjn.2022.270
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Long-Term Outcome of Hemimasticatory Spasm.

    Ray, Somdattaa / Kamble, Nitish / Yadav, Ravi / Pal, Pramod Kumar

    Journal of movement disorders

    2022  Volume 15, Issue 2, Page(s) 146–150

    Abstract: Objective: This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.: Methods: We performed a retrospective ... ...

    Abstract Objective: This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
    Methods: We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020.
    Results: The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4-7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy.
    Conclusion: This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.
    Language English
    Publishing date 2022-03-16
    Publishing country Korea (South)
    Document type Journal Article
    ZDB-ID 3021788-X
    ISSN 2093-4939 ; 2005-940X
    ISSN (online) 2093-4939
    ISSN 2005-940X
    DOI 10.14802/jmd.21067
    Database MEDical Literature Analysis and Retrieval System OnLINE

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