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Purpose: Pediatric dystonia (PD) has a significant negative impact on the growth and development of the child. This study was done retrospectively to analyze functional outcomes in pediatric patients with dystonia who underwent deep brain stimulation., Methods: In this retrospective analytical study, all the patients of age less than 18 years undergoing deep brain stimulation (DBS) for dystonia between 2012 and 2020 in a single center were analyzed and their functional outcomes were measured by the Burke-Fahn-Marsden-dystonia-rating-scale (BFMDRS)., Results: A total of 10 pediatric patients were included with a mean age of onset, duration of disease, and age at surgery being 5.75 years, 7.36 years, and 13.11 years, respectively, with a mean follow-up of 23.22 months. The mean pre-DBS motor score was 75.44 ± 23.53 which improved significantly at 6-month and 12-month follow-up to 57.27 (p value 0.004) and 50.38 (p value < 0.001), respectively. Limbs sub-scores improved significantly at both the scheduled intervals. There was a significant improvement in disability at 1-year follow-up with significant improvement in feeding, dressing, and walking components. There was a 27.34% and 36.64% improvement in dystonia with a 17.37% and 28.86% reduction in disability at 6 months and 12 months, respectively. There was a positive correlation between the absolute reduction of the motor score and improvement in disability of the patients at 6 months (rho = 0.865, p value 0.003)., Conclusions: DBS in PD has an enormous role in reducing disease burden and achieving a sustainable therapeutic goal., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Competing Interests: Declaration of competing interest VVH, BKS, SP, KN, NK, BM, PKP, and RY have no financial disclosures or any conflicts of interest to report relevant to this article.

The article discusses a case of Dopamine Dysregulation Syndrome (DDS) in a 45-year-old female with Parkinson's disease, mimicking ultradian rapid cycling bipolar disorder. The patient exhibited escalating drug-seeking behavior, mood swings, and significant affective symptoms, including suicidality and psychotic symptoms, associated with levodopa intake and withdrawal. The management of DDS involved optimizing anti-parkinsonism treatment and using valproate, which showed significant improvement in the patient's behavioral and Parkinsonian symptoms. The article highlights the challenges in diagnosing and managing DDS, emphasizing the importance of careful history-taking and tailored treatment approaches for patients with Parkinson's disease experiencing mood symptoms related to DDS. [Extracted from the article]

Keywords: abetalipoproteinemia; ophthalmoplegia; ataxia; MTTP EN abetalipoproteinemia ophthalmoplegia ataxia MTTP 514 517 4 03/23/23 20230301 NES 230301 Abetalipoproteinemia is an uncommon potentially treatable cause of early-onset ataxia associated with retinitis pigmentosa and acanthocytes. Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. However, atypical retinal pigmentation retinopathy and diarrhea with fat malabsorption favored abetalipoproteinemia over other diagnostic possibilities. [Extracted from the article]

Tardive dystonia (TD) is a disabling neurological disorder and is usually refractory to medical therapy. Over the past decade, several case reports and case series have demonstrated remarkable benefits of deep brain stimulation of the globus pallidus interna for the treatment of refractory TD. In this case report, we present an illustrative case of refractory TD treated with globus pallidus interna-deep brain stimulation, with long-term sustained improvement of the dystonia and psychiatric comorbidity. In addition, the patient had a dorsal cord schwannoma, producing pyramidal signs in the lower limbs, which highlights the need for meticulous clinical examination for optimum patient management. [ABSTRACT FROM AUTHOR]

The genetics of dystonia have varied across different ethnicities worldwide. Its significance has become more apparent with the advent of deep brain stimulation. To study the clinico-genetic profile of patients with probable genetic dystonia using whole exome sequencing (WES). A prospective, cross-sectional study was conducted from May 2021 to September 2022, enrolling patients with dystonia of presumed genetic etiology for WES. The study compared genetically-determined cases harboring pathogenic/likely-pathogenic variants (P/LP subgroup) with the presumed idiopathic or unsolved cases. We recruited 65 patients (males, 69.2%) whose mean age of onset (AAO) and assessment were 25.0 ± 16.6 and 31.7 ± 15.2 years, respectively. Fifteen had pathogenic/likely-pathogenic variants (yield = 23.1%), 16 (24.6%) had variants of uncertain significance (VUS), 2 were heterozygous carriers while the remaining 32 cases tested negative (presumed idiopathic group). The P/LP subgroup had a significantly younger AAO (16.8 ± 12.3 vs 31.3 ± 17.0 years, p = 0.009), longer duration of illness (10.9 ± 10.3 vs 4.8 ± 4.3 years, p = 0.006), higher prevalence of generalized dystonia (n = 12, 80.0% vs n = 10, 31.3%, p = 0.004), lower-limb onset (n = 5, 33.3% vs n = 1, 3.1%, p = 0.009), higher motor (p = 0.035) and disability scores (p = 0.042). The classical DYT genes with pathogenic/likely pathogenic variants included 3 cases each of TOR1A , and KMT2B , and single cases each of SGCE , EIF2AK2 , and VPS16. Non-DYT pathogenic/likely-pathogenic cases included PINK1 , PANK2 , CTSF , POLG , MICU1, and TSPOAP1. The yield of WES was 23.1% among cases of probable genetic dystonia. Pathogenic or likely pathogenic variants in TOR1A , KMT2B , and SGCE genes were commoner. The absence of family history emphasizes the importance of accurate assessment of clinical predictors before genetic testing. • The current study reflects the spectrum of dystonia presenting to a tertiary neurology centre. • Estimated genetic yield of 23.1% stands at par with previous studies. • Younger age at onset and at presentation, generalized dystonia, and lower limb onset predicted a positive genetic etiology. • Disease-causing variants in TOR1A, KMT2B and SGCE genes were identified in marginally higher proportions. [ABSTRACT FROM AUTHOR]

Background: The battery life of the pulse generator depends on deep brain stimulation (DBS) parameters like amplitude, frequency, and stimulation configuration. There is a lack of studies concerning the clinical and technical aspects of battery replacements following DBS surgery in India. We aim to study the stimulation patterns in patients with Parkinson's disease (PD) who have undergone DBS and the clinical and other factors leading to battery replacements and correlate them. Aim: To find the correlation between clinical characteristics and stimulation parameters in patients with PD who have undergone DBS and battery replacement. Results: A total of 23 patients with PD underwent battery replacements between 2009 and 2021. The mean age of presentation to our hospital was 49.6 ± 10.2 years, with the mean age of onset of disease being 40.6 ± 8.2 years. The mean duration to DBS surgery from the onset of disease was 11 ± 3.6 years. All these patients had opted for a non-rechargeable battery at the time of DBS. The mean levodopa equivalent dose in these patients before DBS surgery was 899.6 ± 225.6 mg/ day. The mean duration to battery replacement after DBS was 5 ± 1.8 years. Of the 23 patients, eight opted for a rechargeable battery and 15 opted for a non-rechargeable battery. The most common reason for battery replacement was that the predicted life span of battery was exceeded (n = 13). Battery drain was detected before expected replacement date in six patients, while four patients had worsening of the clinical status. Of the four patients with worsening of clinical status, two patients presented in the emergency in an akinetic rigid state. In these two patients, the duration to replacement was 4 years. There was significant negative correlation between age of onset and duration to battery replacement (r = -0.587, P = 0.003). There was no significant correlation between levodopa equivalent dose at the time of DBS and duration to battery replacement (r = -0.334, P = 0.12). The stimulation parameters were analyzed and correlated to duration to battery replacement. There was significant negative correlation between the pulse width settings before replacement and the battery life (r = -0.475, P = 0.02). There was no significant correlation of amplitude and frequency with the battery life (P = 0.51 and P = 0.19, respectively). The electrode configuration was analyzed in these patients. Of the 23 patients, 19 had a monopolar lead configuration, while four had an interleaving configuration. These was no difference in duration to battery replacement in patients who had either of the two configurations (Z = -1.307, P = 0.19). The duration to replacement was also correlated to change in the amplitude and frequency of stimulation, which was found to be insignificant. Discussion: This study tried to correlate the stimulation and clinical data of patients who have undergone DBS followed by battery replacement. We found that there was a negative correlation between the pulse width settings of DBS and the duration to battery replacement. This indicated that a higher pulse width may result in an earlier battery replacement. However, there was no correlation of amplitude and frequency with the duration of battery life. The type of DBS lead configuration (monopolar vs. interleaving) did not influence the battery drain. The age of onset correlated negatively with the duration to battery replacement, indicating that young-onset PD may respond better to DBS and battery may last longer in these cases. As all DBS neurostimulators in this cohort were of the same make and all opted for a non-rechargeable battery, a comparison between internal pulse generator (IPG) models and battery types was not possible. Impedance values were not available for all patients, and therefore not included in the analysis. Conclusions: This study shows that the battery life is influenced by stimulation parameters. A higher pulse width was associated with shorter battery life. Also, patients with earlier age of onset of PD had a longer duration to replacement. The significance of this finding is not clear. Further longitudinal analysis is required to include patients who had a rechargeable battery placed during DBS surgery and those in whom a different neurostimulator was placed. It is, therefore, possible to predict to a certain extent the duration of battery life. However, more reliable methods are required to estimate the same. [ABSTRACT FROM AUTHOR]