Annals of Indian Academy of Neurology最新文献

Background and objectives: Deep brain stimulation (DBS) is an approved treatment modality for Parkinson's disease (PD) with significant improvement in motor symptoms. We aimed to study the long-term effects of DBS on non-motor symptoms (NMS) in patients with PD.

Methods: In our ambispective study, we included 36 PD patients who had undergone DBS at our institute. The demographic profile, clinical details, levodopa equivalent daily dose, motor severity scales (Unified PD Rating Scale, and Hoehn and Yahr scale), and nine non-motor scales were retrieved from the medical records department. The mean duration from time of DBS surgery to date of assessment was 51.78 ± 34.19 months. Based on this, patients were categorized into group I, whose duration from DBS surgery to date of assessment was ≤51.78 months, and Group II, with >51.78 months duration. Pre-DBS NMS scores were compared with post-DBS scores.

Results: There were 20 patients in group I and 16 in Group II. In both groups, motor symptoms improved significantly after DBS that persisted even after 51.8 months. Significant improvement in various NMS was also observed, including daytime sleepiness, sleep quality, quality of life, depression, anxiety, and impulse control disorders (ICDs). In addition, DBS also had a favorable impact on various other non-motor symptoms such as mood, gastrointestinal, and miscellaneous domains of the Non-Motor Symptom Scale (NMSS).

Conclusions: DBS, in addition to improving the motor symptoms, has long-term beneficial effects on several NMS. Thereby, it improves the quality of life in PD patients.

Background and objectives: The time taken to transport patients for thrombolytic therapy in stroke cases remains alarmingly high, compromising potential positive outcomes. Addressing these delays can enhance prehospital care and improve patient prognoses.

Aim: This study aimed to identify factors causing delays in treating acute stroke patients at a tertiary care hospital in southern India, to inform better practices and expedite care.

Methods: Caregivers of ischemic stroke patients were interviewed about delays. Patients were divided into two groups: those who arrived within the critical four-and-a-half-hour window (Group A) and those who arrived later (Group B). Data collected included distance from home to hospital, transportation options, and mode of transport. A comparative analysis was performed between patients from stroke-ready facilities versus others, with data analyzed using SPSS software.

Results: The study included 594 patients, with 73.4% arriving outside the recommended window. Women represented one-third of the population overall and 20% in Group A. Younger patients arrived sooner (P < 0.0001). The main reason for delays was a lack of awareness of stroke symptoms (53.2%), followed by initial care sought at non-stroke-ready hospitals (23%). Use of ambulances and vehicle ownership significantly correlated with faster arrivals (P < 0.0001), while distance to the hospital did not significantly affect timeliness. Though most of the variables showed statistical significance between those coming to the hospital within and outside the four-and-a-half hour window with univariate analysis, none of the variables showed a significant association when subjected to logistic regression.

Conclusions: Delays in stroke treatment are a major concern, linked to factors like age, gender, and transportation issues. No single factor independently predicted early hospital arrival. To improve outcomes, we need strategies that enhance public education, symptom recognition, and transportation-especially for vulnerable groups like women and the elderly.

Background and objectives: The clinical spectrum of spinal muscular atrophy (SMA) is heterogenous and depends on several factors. This study aimed to investigate the correlation between the motor outcomes and genetic modifiers of SMN1 gene.

Methods: In this cross-sectional study, children with genetically confirmed diagnosis of SMA were enrolled. Motor outcomes were assessed using standard age-appropriate scale (Children's Hospital of Philadelphia infant test of neuromuscular disorders [CHOP], Revised Hammersmith Scale [RHS], and Medical Research Council [MRC] sum score). The copy numbers of SMN1, SMN2, and NAIP genes were estimated using multiplex ligation probe analysis.

Results: Fifty children with SMA (26 males), with a mean age of 36 (17-84) months, were enrolled. Late-onset subtypes of SMA (types 2 and 3) constituted 78% of cases. The mean ± standard deviation (SD) CHOP score of children with type 1 SMA having one, two, and three copies of SMN2 gene exon 7 was 24 ± 5, 24 ± 8, and 35 ± 13, respectively. The mean ± SD RHS score of children with type 2 and 3 SMA was 32 ± 16, 29.4 ± 17, 37.8 ± 16, 56 ± 4 among children having two, three, four, and five copies of SMN2 gene exon 7. The RHS score and MRC sum score correlated significantly with SMN2 gene exon 7 copy numbers (p < 0.05). Homozygous deletion of NAIP gene was significantly higher in children with type 1 SMA compared to those with type 2 and 3 SMA (p value- 0.006).

Conclusions: The SMN2 gene exon 7 copy numbers correlate significantly with motor outcomes in children with SMA. NAIP gene deletion negatively influences the disease severity. NAIP gene can serve as a biomarker for disease prognostication.

Background and objectives: To correlate the distribution of neurogenic motor unit potentials in the upper limb (s) and the extent of anterior displacement of the cervical duramater on neck flexion with the progression of weakness/atrophy in Hirayama disease.

Methods: Consecutive patients with distal Hirayama disease were classified as distal group (neurogenic potential in C7-T1 innervated muscles), proximal (neurogenic potentials C5-T1 muscles), and contralateral group (neurogenic potentials in contralateral hand/arm). Based on the extent of anterior dural displacement on neck-flexed cervical magnetic resonance imaging, patients were classified as anterior dural displacement across the C5 vertebra and anterior dural displacement at C5 vertebra and below. The disease progression at 1 year was correlated with the distribution of neurogenic potentials and the extent of anterior dural displacement.

Results: Twenty-eight patients (mean age, 17.41 ± 2.30 years; all males) were included. Eleven (39.2%), 17 (60.7%), and 22 (78%) patients were in proximal, distal, and contralateral groups, respectively. Twenty-three (82%) had anterior dural displacement across the C5 vertebra, whereas 5 (17%) had anterior dural displacement at C5 vertebra and below. Ipsilateral disease progression was seen in 15 (53%) and contralateral progression in 25 (89%) (new onset in 7 [25%]). No patient showed progression in shoulder/arm muscles. The proximal group had a significantly larger extent of anterior dural displacement. However, there was no correlation of disease progression with either the distribution of neurogenic motor unit potentials or the extent of cervical dural displacement on neck flexion.

Conclusions: The extent of anterior dural displacement on neck flexion and neurogenic motor unit potentials in proximal, distal, or contralateral upper limb did not correlate with progression of muscle weakness/atrophy in Hirayama disease at 1 year.