Annals of Indian Academy of Neurology最新文献

Background and objectives: Robot-assisted gait training (RAGT) constitutes a modern neurorehabilitation approach. However, limited data are available regarding the efficacy of RAGT when combined with conventional rehabilitation in the early subacute phase of stroke. This pilot study assessed the additive impact of protocol-defined RAGT on functional ambulation categories (FACs), walking abilities, and balance.

Methods: This randomized controlled trial used a 1:1 Prospective Randomized Open Blinded End-point design (NCT04910217), comparing two groups: conventional rehabilitation and the RAGT group. All participants received protocol-defined conventional rehabilitation (15 sessions over 3 weeks). The RAGT group underwent additional sessions using the Lokomat Pro FreeD (15 sessions over 3 weeks). FAC, 10-meter Walk Test (10MWT), Timed Up and Go (TUG), and Berg Balance Scale (BBS) were assessed at 3 weeks and 3 months after randomization. In addition, the modified Rankin Scale was evaluated.

Results: Among 184 patients screened between June 1, 2020, and November 30, 2023, 42 were included (19 in the RAGT group and 23 in the conventional group). The median time from stroke to randomization was 13 days (interquartile range [IQR]: 11-16), and the median age was 67 years (IQR: 58-71). Both groups demonstrated improvements in FACs. Significantly, patients in the RAGT group showed better results in the endpoint of FAC improvement by 2 or more points ( P = 0.044). Progress in TUG ( P = 0.034) and BBS ( P = 0.049) during the study period was significantly more favorable in the RAGT group.

Conclusions: The addition of RAGT to conventional rehabilitation in the subacute phase of stroke exhibited positive effects on improving gait, walking, and balance.Trial registration number: NCT04910217.

Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.

Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles. Limited evidence suggests possible respiratory muscle weakness and obstructive sleep apnea (OSA). We aimed to assess daytime lung functions and OSA in GNE myopathy. Nine patients were evaluated by spirometry, maximal inspiratory pressure (MIP), maximal expiratory pressure, single-breath count (SBC), peak cough flow (PCF), arterial blood gases (ABG), sleep questionnaires, and polysomnography. All patients had normal spirometry and ABGs, but 55.6% had decreased MIP, 44.4% had decreased PCF, and 55.6% had SBC<20. Poor sleep quality was common (77.8%). OSA was present in 66.7% of the patients. In conclusion, subclinical respiratory muscle weakness and OSA were frequent in GNE myopathy patients with normal spirometry. Therefore, MIP, PCF, SBC, and polysomnography should be included in routine evaluation.

Background and objectives: Lyme disease is zoonotic infection transmitted by Borrelia burgdorferi and, if left undiagnosed, can present in later stages with neurological manifestations. This review aims to consolidate evidence on stroke-like or similar cerebrovascular outcomes of Lyme neuroborreliosis (LNB) to aid early recognition and treatment.

Methods: A comprehensive search resulted in 90 patients meeting European Federation of Neurological Societies/Infectious Diseases Society of America/ American Academy of Neurology/American College of Rheumatology (EFNS/IDSA/AAN/ACR) criteria for LNB with radiologically or serologically confirmed cerebrovascular involvement. Data were charted descriptively.

Results: Median age was 12 years among children and 52 years in adult cases. Tick exposure was reported in 89% of cases. Presentations included hemiparesis (51%), cranial-nerve palsy (38%; Lower Motor Neuron (LMN) facial 31%), and cognitive changes (26%). Common imaging findings were vasculitis (72%) and ischaemic stroke (51%), mainly in the cortical (56%) area. Cerebrospinal fluid (CSF) lymphocytic pleocytosis (median 73 cells/µL) with presence of intrathecal Borrelia Immunoglobulin G (IgG) appeared in the majority of cases. Antibiotics (mainly ceftriaxone) were used in 85% of cases and interventional management in 13% of cases. Ninety percent of cases improved after 6 months of treatment. Mortality and persistent tetraplegia were reported in 5% and 3% of cases, respectively.

Conclusions: LNB should be suspected in cases of cryptogenic stroke from endemic areas. Reduction in CSF pleocytosis with intrathecal Borrelia antibodies could predict a favorable antibiotic response, although some refractory cases were observed to improve only with interventional management. Prompt diagnosis and management can affect morbidity and mortality.