Neurology最新文献

Background and objectives: Multiple sclerosis (MS) is a CNS disease causing significant disability, mainly in young and middle-aged individuals. Despite extensive global research, Mexico lacks comprehensive epidemiologic data on MS, complicating effective health care planning and intervention. This study analyzes the epidemiology of MS in Mexico using data from the Global Burden of Disease (GBD) study. It focuses on prevalence, incidence, disability-adjusted life years (DALYs), years lived with disability (YLDs), and years of life lost (YLLs) from 1990 to 2021. In addition, it examines the relationship between the sociodemographic index (SDI) and MS burden across Mexican states.

Methods: Data were sourced from the GBD 2021 and analyzed using standard GBD methodologies. Key metrics included prevalence, DALYs, YLDs, and YLLs, standardized by age. Pearson correlation and linear regression were used to evaluate the association between SDI and MS prevalence. A locally weighted regression (LOESS) model was applied to compare observed and expected DALY rates based on SDI, identifying regional disparities in MS burden.

Results: In 2021, an estimated 18,016 individuals (95% uncertainty interval [UI] 14,993-21,337) lived with MS in Mexico, with an age-standardized prevalence of 13.10 per 100,000 inhabitants (95% UI 10.91-15.50). The incidence rate was 0.65 per 100,000 inhabitants (95% UI 0.55-0.75). Total DALYs for MS in 2021 were 17,947 (95% UI 14,458-20,542), comprising 13.05 age-standardized DALYs per 100,000 inhabitants. YLLs accounted for 9.47 per 100,000 inhabitants (95% UI 8.24-10.85) and YLDs for 3.56 (95% UI 2.45-4.77). The LOESS model revealed significant regional discrepancies, with Northern Mexico exhibiting better-than-expected health outcomes while Central and Southern Mexico displaying higher observed DALYs than expected.

Discussion: The findings highlight substantial regional disparities in the MS burden across Mexico. Northern Mexico showed better-than-expected health outcomes while Central and Southern Mexico exhibited higher disease burdens than anticipated. These discrepancies suggest that socioeconomic factors and health care accessibility significantly affect MS outcomes. The study's limitations include reliance on hospital records and potential underdiagnosis in less developed regions. Enhanced data collection and comprehensive health care strategies are essential to effectively address the growing MS burden in Mexico.

Background and objectives: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease primarily affecting male patients. Female patients with ALD are also affected in adulthood, yet their disease course and symptom burden remain poorly defined. In this single-site study, we set out to characterize disease burden in female individuals with ALD and identify barriers faced by this patient population.

Methods: Adult female individuals with genetically or biochemically confirmed ALD were recruited through an outpatient specialty clinic and a patient advocacy group. We performed a retrospective chart review and conducted prospective telephone interviews to assess symptom presence and onset, interventions and management strategies, injuries, comorbidities, and quality of life (QOL). For comparison, we retrospectively gathered data from ALD diagnosis and symptom onset for adult male patients with ALD seen in our clinic.

Results: We included 127 female (median [interquartile range] age = 50.2 [39.2, 59.9]) and 82 male individuals with ALD (median [interquartile range] age = 37.5 [24.2, 43.9] years). Among our female cohort, 115 (91%) reported neurologic symptoms. The most common symptoms were urinary symptoms (74%), walking difficulty (66%), and spasticity (65%). Mental health symptoms were also common (64%). Of interest, 70 (55%) reported a history of falls, 61 (48%) had sustained injuries from falling, and 54 (43%) had a history of fractures. Compared with the male cohort, our female cohort had a significantly later age at symptom onset and diagnosis. In addition, symptom presentation was less likely to prompt a diagnosis in female individuals. Of 46 female individuals who sought clinical care for symptoms before diagnosis, 22 were initially misdiagnosed. Fifty-one (90%) of 57 female interviewees reported encountering challenges with health care access, and 49 (86%) reported a reduction in different aspects of QOL. Activities of daily living beyond walking were affected in 25 (44%) participants.

Discussion: We conclude that symptoms related to myelopathy and neuropathy are common in female individuals with ALD and that their disease burden is aggravated by the high rates of mental health problems, barriers to health care access, and injuries and complications requiring treatment. Limitations of our study include a risk for recall bias and selection bias.

Strokes in the right temporal lobe are known to cause acquired amusia, or deficits in music processing, which can be formally assessed using the online version of the Montreal Battery of Evaluation of Amusia (MBEA). Patients with acquired amusia most often present with not only amusia but also other neurologic symptoms, such as aphasia, neglect, or memory issues. We report a case of a 39-year-old man who initially presented for follow-up after a single seizure episode. Two years before the seizure, the patient experienced an episode of headache, nausea, and vomiting, after which he developed difficulty appreciating music and carrying a tune, something he had never experienced before as a competent trumpet player and singer. An MRI scan performed after his seizure revealed encephalomalacia and gliosis within the right lateral temporal lobe with areas of hemosiderin deposition, suggesting that the episode 2 years ago was a stroke. His standard neurologic examination was normal including a score of 30/30 on the Montreal Cognitive Assessment. On the online version of the MBEA, he scored 66.7% on the off-tune test, 87.5% on the off-beat test, and 70.8% on the out-of-key test, consistent with a diagnosis of amusia. This case highlights the importance of eliciting less common isolated neurologic symptoms in patients with an otherwise normal examination, including musical symptoms. We also highlight the utility of tools such as the MBEA to document the severity of amusia and potentially to follow patients' progress as they recover.

Background and objective: Information on absolute risks of sudden unexpected death in epilepsy (SUDEP) in individual patients with epilepsy is scarce. Our main objective was therefore to explore the range in incidence rates of SUDEP to provide a more solid basis for individualized counseling and to characterize patients with high and very high SUDEP incidence for future intervention studies aiming at prevention of SUDEP.

Methods: We used data on everyone in Sweden diagnosed with epilepsy from 1998 to 2005 (n = 60,952), followed until 2011 and identified SUDEP cases through adjudication of deceased patients who had epilepsy. We conducted a nested case-control study and retrieved detailed information on clinical characteristics for the SUDEP cases and matched living epilepsy controls (5:1). Estimates of the strengths of associations from the case-control study were used to estimate the incidence rate of SUDEP (per 100,000 person-years) in the full cohort by SUDEP risk factors.

Results: Two hundred fifty-five SUDEP cases (median age 48 years; 154 males) were identified. The lowest incidence, 8 (95% CI 3-17), was observed among patients without a history of tonic-clonic seizures (TCS), whereas patients with 1 or more TCS the preceding year had an incidence of 287 (95% CI 192-428). Incidence rates above 200 were also found among patients with a history of nocturnal TCS, substance abuse or alcohol dependence, and nonadherence with antiseizure medication (ASM) treatment. Considering combination of risk factors, the incidence rate was very low, 5 (95% CI 2-12), for patients who share bedroom and are free from TCS the preceding year as well as adherent with the prescribed ASM treatment. By contrast, patients living alone who are nonadherent have a history of nocturnal TCS and at least 1 TCS the preceding year have an incidence at 1808 (95% CI 594-5,504), more than 350 times higher than the low-risk patient.

Discussion: In this analysis of Swedish population-based SUDEP data, we have identified a 350-fold difference in the SUDEP incidence depending on individual circumstances and epilepsy characteristics. Although somewhat old, our data should be useful for patient counseling about individual SUDEP risks amenable to modification and for case stratifications for intervention studies aiming at prevention of SUDEP.

Background and objectives: Idiopathic normal pressure hydrocephalus (iNPH) is characterized by gait disturbance, cognitive decline, and urinary incontinence and may include parkinsonism. The underlying mechanism of parkinsonism in iNPH-whether neurodegenerative or mechanical-remains unclear. This study aimed to assess nigrostriatal integrity in iNPH patients with parkinsonism using dopaminergic transporter imaging (DAT-SPECT) and nigrosome MRI.

Methods: This prospective study was conducted at the Movement Disorders Clinic, Santa Chiara Hospital, Pisa University, from 2021 to 2023. Inclusion criteria for the iNPH group included the following: (1) clinical diagnosis of probable iNPH per the 2021 Japanese Society Guidelines and (2) parkinsonism per United Kingdom Parkinson's Disease Society Brain Bank criteria. An equal number of patients with Parkinson disease (PD), matched for age and sex, served as a comparison group. All participants underwent DAT-SPECT and 3T MRI within 1 month. Statistical analyses included the Student t test or Fisher-Pitman permutation tests for continuous variables and χ² tests for categorical variables. Multiple linear regression (adjusted for age and sex) compared DAT binding between groups. Pearson correlation assessed relationships between striatal DAT binding and parkinsonism in patients with iNPH evaluated using the Movement Disorder Society Unified Parkinson's Disease Rating Scale Part III.

Results: A total of 20 patients with iNPH (mean age 75.4 ± 5.1 years, 65% female) and 20 patients with PD (mean age 74 ± 3.7 years, 55% female) were included. Reduced striatal DAT binding was observed in 45% of patients with iNPH, with none exhibiting nigrosome loss. Conversely, all patients with PD showed both reduced DAT binding and nigrosome loss (p < 0.001). After adjusting for age and sex, patients with iNPH exhibited significantly higher putaminal and caudate DAT binding than patients with PD (right putamen: β = -0.644, p < 0.001; left putamen: β = -0.659, p < 0.001; right caudate: β = -0.429, p = 0.006; left caudate: β = -0.391, p = 0.016), with an elevated putaminal/caudate ratio (p = 0.012). In patients with iNPH, striatal DAT binding negatively correlated with motor severity (left: r = -0.626, p = 0.004; right: r = -0.425, p = 0.07).

Discussion: Findings suggest that parkinsonism in iNPH may stem from mechanical disruption of the nigrostriatal pathway rather than neurodegeneration, as indicated by preserved nigrosome integrity despite reduced DAT binding. Limitations include the small sample size and lack of postsurgical follow-up data.