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Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis
Vikram Venkappayya Holla,Koti Neeraja,Bharath Kumar Surisetti,Shweta Prasad,Nitish Kamble,Dwarakanath Srinivas,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.3
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Speech induced task specific cranio-cervical tardive dystonia: An unusual phenomenology
Vikram Venkappayya Holla 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
Dystonia is defined as sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Task-specific dystonia (TSD) encompasses a group of focal dystonias, affecting an isolated body part, predominantly laryngeal and hand muscles, and triggered by a specific and often skilled task. Frequently reported TSDs include laryngeal dystonia, writer’s cramp, musician’s dystonia, and occupational dystonia. Speech-induced dystonia often involves laryngeal and cranial muscles, with a speech-induced cervical TSD very rarely reported
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Vikram Venkappayya Holla,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.2
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Sialidosis type I without cherry red spot – Is there a genetic basis?
Koti Neeraja,Vikram Venkappayya Holla,Shweta Prasad,Bharath Kumar Surisetti,Kempaiah Rakesh,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.1
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
Clinical and Imaging Profile of Patients with Joubert Syndrome
Bharath Kumar Surisetti,Vikram Venkappayya Holla,Shweta Prasad,Koti Neeraja,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2021 Journal Of Movement Disorders Vol.14 No.3
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
The Non-Motor Symptom Profile of Progressive Supranuclear Palsy
Sudhakar Pushpa Chaithra,Shweta Prasad,Vikram Venkappayya Holla,Albert Stezin,Nitish Kamble,Ravi Yadav,Pramod Kumar Pal 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.2
ObjectiveaaNon-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients withparkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) usingthe validated Non-Motor Symptom Scale (NMSS). MethodsaaSeventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSPRating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD)and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also comparedbetween patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism. ResultsaaAll subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domainsof sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular includingfalls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D,PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RSreported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexualdysfunction. ConclusionaaNMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function aremost commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attentionto identifying and addressing these symptoms.