Successful Unilateral Surgical Approach to Internal Globus Pallidus and Ventral Intermediate Nucleus of the Thalamus in 3 Cases of Myoclonus-Dystonia Syndrome.

Surgical approaches of internal globus pallidus (GPi) and ventral intermediate thalamic nucleus (Vim) have been used to treat different movement disorders. Three subjects with myoclonus-dystonia syndrome were surgically treated, one of them with GPi and Vim stimulation, while radiofrequency ablation of these structures was performed in the other 2 subjects. Surgical approach of both targets was performed simultaneously on each subject. Mean follow-up was of 33.3 months (22-48 months), the Unified Myoclonus Rating Scale action myoclonus (AM), functional tests (FT), patient questionnaire (PQ) sub-scores, and the Unified Dystonia Rating Scale (UDRS) were used during assessments. Improvement in all scales were seen 6 months after surgery (AM: 74%, FT: 60%, PQ: 63%, UDRS: 65%), and this benefit persisted throughout follow-up (AM: 61%, FT:62%, PQ: 65%, UDRS: 86%). No adverse events were noticed. Simultaneous unilateral procedures of GPi and Vim by either stimulation or ablation techniques improve both motor and functional scores in myoclonus-dystonia syndrome.

[Time from motor symptoms onset to diagnosis of Parkinson's disease in Mexico]. / Tiempo desde el inicio de los síntomas motores hasta el diagnóstico de enfermedad de Parkinson (EP) en México.

INTRODUCTION: Parkinson's disease is characterized by a wide spectrum of motor and non-motor symptoms with an insidious onset. Identification of these symptoms by the patient as well as by the physician is determinant in order to achieve an early diagnosis. OBJECTIVE: To determine the time from motor symptoms onset to the diagnosis of Parkinson's disease and analyze the clinical and demographic factors related to it. MATERIAL AND METHODS: A cross-sectional study was carried out including subjects with Parkinson's disease seen during the 2011-2012 period and belonging to the Mexican National Parkinson's Registry. Time from symptom onset to the diagnosis was collected; its relation with demographic and clinical characteristics was assessed. RESULTS: A total of 1,062 subjects were included. Delay in diagnosis was 29.5 months. Predictive factors for a longer diagnostic delay were symptoms onset before 40 years of age (B: -0.350; p < 0.001) and a positive family history of Parkinson's disease (B: 0.224; p < 0.001). CONCLUSIONS: The diagnosis of Parkinson´s disease in Mexico is two and a half times greater than what has been reported for other countries.

Clinical predictors for mechanical ventilation assistance in Guillain-Barré syndrome.

Background: Guillain-Barré syndrome (GBS) frequently leads to respiratory failure and autonomic dysfunction, resulting in approximately one-third of patients requiring mechanical ventilation. Objective: This study aimed to identify clinical predictors for mechanical ventilation in patients with GBS. Methods: This research was conducted from 2010 to 2021 using registries from a tertiary hospital in an upper middle-income Latin American country. Participants were categorized into two groups based on their ventilation status. Demographic data were collected, and independent predictors of the need for mechanical ventilation were determined through multivariate logistic regression analysis. Results: Dysautonomic events occurred in 36% of the patients, with 17% requiring mechanical ventilation; the average duration of intubation was 1.16 ± 3.18 days. The multivariate analysis indicated that bulbar dysfunction significantly increased the likelihood of requiring mechanical ventilation by 19-fold (OR 18.67, 95% CI 5.85-59.42), followed by ophthalmoplegia, which increased the likelihood by sixfold (OR 5.68, 95% CI 1.28-25.19). Conclusion: Bulbar dysfunction, dysautonomia, and lower Medical Research Council (MRC) scores were significant predictors of the need for mechanical ventilation in hospitalized GBS patients. These findings support the need for close monitoring and early admission to the intensive care unit (ICU) admission for at-risk patients.

Contribution of Stroke to Long-Term All-Cause and Cause-Specific Mortality in Mexico City.

BACKGROUND AND OBJECTIVES: Stroke mortality is more common in low-income and middle-income nations such as Mexico. Prognosis data typically rely on short-term hospital follow-ups, revealing high mortality rates due to systemic complications and early recurrence. We aim to explore stroke's long-term impact by examining all-cause and cause-specific mortality. METHODS: We analyzed data from the Mexico City Prospective Study (1998-2004) with known mortality outcomes until December 2022. Baseline variables were compared between participants who had stroke and nonstroke participants. Cox proportional hazard regression assessed each variable's contribution to overall mortality. Subsequent analysis within the stroke subgroup aimed to identify unique risk factors of mortality, using Cox regression models adjusted for age, sex, and time since stroke. RESULTS: Among 145,537 eligible participants, 1,492 (1.0%) had a history of stroke. Participants who had stroke were older (57.58 vs 50.16, p < 0.001); had lower mean weekly income ($108.24 vs $176.14, p < 0.001); had higher alcohol intake and smoking frequency; and had more frequent comorbidities such as hypertension (48.9 vs 19.3%, p < 0.001), diabetes (23.4 vs 12.9%, p < 0.001), and ischemic heart disease (5.4 vs 1.0%, p < 0.001). They had a significantly increased risk of death from any cause (hazard ratio [HR] 2.59, 95% CI 2.37-2.83, p < 0.001). Deceased participants with stroke were more likely to be male, with a higher prevalence of diabetes, hypertension, and abnormal waist-hip index. Stroke increased the risk of death from cardiac (HR 3.56, 95% CI 3.02-4.19, p < 0.001), renal (HR 2.05, 95% CI 1.58-2.66, p < 0.001), and pulmonary (HR 2.29, 95% CI 1.79-2.92, p < 0.001) causes. DISCUSSION: This study confirms stroke's association with higher mortality rates, especially from cardiac, renal, and pulmonary causes in Mexico. It underscores the elevated prevalence of cardiovascular comorbidities and adverse socioeconomic profiles among participants who had stroke and those who died with a history of stroke.

[Profile characterization of Parkinson's disease in Mexico: ReMePARK study]. / Caracterización de la enfermedad de Parkinson en México: estudio ReMePARK.

INTRODUCTION: The Mexican Registry of Parkinson´s disease (ReMePARK) is nested within a multicentric cohort aimed to describe motor, non-motor, and genetic determinants of Parkinson's disease in Mexican patients. MATERIAL AND METHODS: To date, clinical and demographic data from 1,083 subjects has been obtained. Here we present the demographic and clinical data of the current sample along with its comparison with international reports. RESULTS: A total of 607 male and 476 female subjects with Parkinson's disease were included. The mean age of the patients was 64.7 ± 12.9 years. The time from onset of symptoms to diagnosis was 2.4 ± 2.6 years. About 34% of subjects had only elementary education. Of the subjects, 54.4% were under treatment with dopamine agonists. CONCLUSION: Subjects with Parkinson's disease incorporated into ReMePARK are comparable with other international registries, with the exception of the years of formal education, time to diagnosis, and the use of dopamine agonists. The characterization of the Mexican population with Parkinson's disease will improve diagnosis and therapeutic management as well as define research efforts in this area. Finally, registry future directions are presented.

Yerbamate Tea Consumption: A Protective Factor in Parkinson Disease.

INTRODUCTION: Little is known about the association between Yerbamate (YMT) tea consumption and Parkinson disease (PD). We determined whether there was an association between YMT tea consumption and PD. METHODS: We conducted a multicenter case-control study in 3 countries (Argentina, Paraguay, and Uruguay). We applied a structured questionnaire about YMT tea consumption history. The survey also included information about factors previously associated with a decreased and increased risk of PD, apart from medical and demographic factors. Odds ratios and 95% confidence intervals were calculated using multivariate unconditional binary logistic regression analysis. RESULTS: We included 215 cases and 219 controls. The mean age of the cases was 65.6 ± 10.5 years and that of controls was 63.1 ± 10.5 years (P < 0.02). Years of YMT tea consumption, number of liters drunk per day, and amount of YMT used for preparing the infusion were similar between cases and controls (P > 0.05), but not the number of times the YMT was added into the container (P = 0.003) and the YMT tea concentration per serving (P = 0.02). The multivariate analysis showed that YMT tea concentration per serving lowered the risk for PD, independent of potential confounders (odds ratio, 0.62; 95% confidence interval, 0.47-0.84). CONCLUSIONS: This multicenter study highlights the association between an environmental factor, the YMT tea drinking, and PD. Although more evidence from longitudinal studies is needed, the results obtained here points toward a protective effect of the YMT tea concentration per serving on PD.

Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Background: Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders. Objective: Describe the main features of subjects with SPG7 mutations associated with movement disorders. Methods: We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders. Results: Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25 ± 16.1 years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The "ears of the lynx" sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C > T (p.Ala510Val). Conclusion: This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.

Aripiprazole in Meige Syndrome: Clinical Response and Implications for Treatment Development.

INTRODUCTION: Meige syndrome is a segmental form of dystonia where botulinum toxins are the preferred treatment option. However, its invasive nature, treatment costs, partial responsiveness, and benefit duration are some of their limitations. METHODS: Six consecutive subjects with Meige syndrome were treated only with aripiprazole. RESULTS: A dramatic response was obtained in all subjects during the first weeks of treatment. Aripiprazole mean ± SD daily dose was 7.9 ± 3.6 mg. Three subjects developed parkinsonism related to aripiprazole treatment; the former improved after reducing the dosage, without significant worsening of cranial dystonia. After a mean ± SD follow-up of 2.0 ± 0.7 years, clinical benefit persists over time, with a mean percentage reduction of Unified Dystonia Rating Score of 75.6% ± 8.4%. CONCLUSIONS: Aripiprazole should be considered as an alternative treatment option among subjects with Meige syndrome, especially in those refractory to botulinum toxin injections. The clinical response shown in our patients may lead to treatment development.

Functional Dyskinesias following Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease: A Report of Three Cases.

BACKGROUND: Functional (psychogenic) dyskinesias in patients with Parkinson's disease (PD) are exceedingly rare. CASES: Herein we report three patients with PD who presented with functional dyskinesias in the first 3 months after subthalamic nucleus deep brain stimulation (DBS). All patients presented with chorea mimicking levodopa or stimulation-induced dyskinesias in the first 24 hours following stimulation adjustment. Two patients had generalized chorea and one, hemichorea. In all patients the abnormal movements could be induced or resolved with placebo/nocebo changes to the stimulation parameters. Following the diagnosis of a functional movement disorder (FMD), all patients improved with appropriate management. CONCLUSIONS: Functional chorea following DBS might mimic organic dyskinesias in PD but can be accurately diagnosed using suggestibility and placebo responses to sham stimulation adjustments. Recognizing the presence of FMD following DBS is important for proper management of these patients.

Adherence to treatment in Parkinson's disease: A multicenter exploratory study with patients from six Latin American countries.

BACKGROUND: Adherence to treatment in Parkinson's disease (PD) is compromised due to the need for multiple therapies, comorbidities related to aging, and the complexity of therapeutic schemes. In the present study, we aimed to explore adherence to treatment in groups of PD patients from six Latin-American (LA) countries and identify its associated demographic and clinical parameters. METHODS: A multicenter, cross-sectional, exploratory study was conducted from September 2016 to March 2017. Treatment adherence was assessed using the simplified medication adherence questionnaire (SMAQ), applied to patients and caregivers. Sociodemographic and clinical variables (MDS-UPDRS Part III-IV, MMSE, Beck Depression Inventory-II (BDI-II)) were recorded. RESULTS: Eight hundred patients from six LA countries were evaluated. Nonadherence was reported in 58.25% of the population, according to patients. The most frequent issues were forgetfulness and correct timing of doses. A high level of agreement in adherence prevalence and most SMAQ items were observed between patients and their caregivers. The nonadherent population had a significantly higher proportion of unemployment, free access to medication, troublesome dyskinesias and off-periods, lesser years of education, and worse motor, cognitive, and mood scores. In multiple logistic and linear regression analyses, MDS-UPDRS Part III, BDI-II, gender, free access to medication, treatment with dopamine agonists alone, years of education, excessive concerns about adverse effects, and beliefs about being well-treated remained significant contributors to adherence measures. CONCLUSION: Educational strategies, greater involvement of PD patients in decision-making, and consideration of their beliefs and values might be of great need to improve medication adherence in this PD population.

Blepharospasm as a Manifestation of Peak of Dose Dyskinesia in Parkinson Disease.

OBJECTIVES: The aim of the study was to report 4 patients with Parkinson disease (PD) and On-period blepharospasm (BS). METHODS: We analyzed patients with PD and motor fluctuations who developed BS in several different centers in Latin America. RESULTS: Four patients had BS while in the ON periods. CONCLUSIONS: Blepharospasm in the On period in patients with PD is extremely uncommon, and our series is the only one to describe such association.

The Spectrum of Acute Disseminated Encephalomyelitis and Mild Encephalopathy with Reversible Splenial Lesion.

BACKGROUND: Acute disseminated encephalomyelitis and mild encephalopathy with reversible splenial lesion are autoimmune demyelinating disorders of central nervous system. Diagnosis remains clinical, aided by neuroimaging confirmation and excluding other causes. In the absence of a biological marker, the diagnosis of these entities based on clinical and imaging criteria could overlap. METHODS: We describe a 22-year-old woman developing mild neurological signs after an upper tract infection, a brain magnetic resonance image revealed confluent, symmetrical white matter lesions with corpus callosum involvement; after extensive ancillary testing that ruled out secondary causes we concluded that this subject had a post infectious encephalitis sharing clinical and imaging criteria for acute disseminated encephalomyelitis. However, mild encephalopathy with reversible splenial lesion could be an alternate diagnosis for this subject. Treatment with methylprednisolone completely solved both the clinical and image abnormalities without relapsing for more than 3 years of follow-up. CONCLUSION: Both acute disseminated encephalomyelitis and mild encephalopathy with reversible splenial lesion share clinical and radiological features. A biological marker is needed to differentiate among these entities, since overlap is seen according to current criteria.

Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant.

Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy. Discussion: Paroxysmal worsening of movement disorders should be suspected as part of the ATP1A3 spectrum. Treatment outcome might be predicted based on the phenotype.

Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations.

BACKGROUND: Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far. OBJECTIVE: To describe four new cases with additional phenotypical features. RESULTS: Four affected patients from two unrelated families were identified. Two compound heterozygous variants of the gene (c.257_259delins35 and c.301+1G > T) were found in one family (cases 1 and 2), and homozygous c.823_824delAG variant was identified in cases 3 and 4. In addition to the previously described syndrome characterized by cerebellar ataxia, dystonia, choreoathetosis, cognitive impairment and gaze palsy, two subjects presented with iridoplegia. Furthermore, we report dysautonomic features such as orthostatic hypotension and sudomotor dysfunction, along with other non-motor symptoms. CONCLUSIONS: We expand the phenotype of dystonia caused by Sequestomosome-1 gene by identifying dysautonomic features along with other non-motor symptoms.

Allergy to Carbidopa.

BACKGROUND: D-Decarboxylase inhibitors, such as carbidopa or benserazide, have been used as adjunct therapy in Parkinson disease shortly after levodopa synthesis in the 1960s. These compounds increase intracerebral drug concentration and decrease adverse effects by blocking peripheral conversion to dopamine. Skin rash as part of an allergic reaction was previously described in subjects who were using levodopa in combination with carbidopa or benserazide; however, etiology was never clear. Allergic reactions to carbidopa have not previously been reported. METHODS: We report a case of a 77-year-old woman with a diagnosis of idiopathic Parkinson disease, who developed autonomic and dermatological signs: conjunctival injection, rhinorrhea, excessive sweating, hypertension, and pruritic generalized rash, among others, immediately after carbidopa/levodopa administration regardless of the manufacturer. Treatment with dexamethasone combined with chloropyramine hydrochloride resulted in complete resolution of the hypersensitivity reaction each time it presented. The autonomic and dermatological manifestations did not reappear after treatment was replaced with benserazide/levodopa. CONCLUSIONS: To the best of our knowledge, this is the first case report of an allergic reaction specific to carbidopa. Our case highlights the importance of identifying the source of a hypersensitivity drug response, whether it is caused by the active component or by the excipients.

Successful Treatment of Brachial Plexopathy Due to Herpes Zoster Infection With Intravenous Immunoglobulin.

OBJECTIVE: The aim of this study was to report the case of a male patient with Parkinson disease who developed brachial plexopathy (BP) due to varicella-zoster virus, which was successfully treated with human immunoglobulin. METHOD: We report the case of a 75-year-old male subject with a diagnosis of Parkinson disease who came to our hospital complaining of pain, skin lesions, and strength loss in his right arm during the past 2 months. Physical examination revealed vesicular rash compatible with varicella-zoster virus lesions. Nerve conduction studies and magnetic resonance imaging of the brachial plexus showed inflammatory changes at that level. A trial with oral valacyclovir followed by intravenous methylprednisolone bolus was administered without further response. However, human intravenous immunoglobulin resulted in complete recovery of the symptoms. CONCLUSIONS: Human immunoglobulin is effective in BP due to zoster infection and must be considered if standard treatment fails. To the best of our knowledge, this is the first report of BP associated to zoster infection successfully treated with intravenous immunoglobulin.

Autosomal dominant leukodystrophy presenting as Alzheimer's-type dementia.

Autosomal dominant leukodystrophy is a neurodegenerative disorder caused by either point mutations or duplication of the lamin B1 gene on chromosome 5q23. The typical clinical picture consists of autonomic symptoms as well as cerebellar and pyramidal signs. Here we present the case of a 57-year-old female referred to our clinic due to cognitive decline. Neurological examination was significant for cognitive impairment as well as pyramidal and cerebellar signs. Brain MRI displayed diffuse hyperintense lesions in the subcortical white matter, pontine nuclei, brachium pontis and restiform body. The diagnosis was confirmed via genetic testing. Autosomal dominant leukodystrophy should be included in the differential diagnosis of patients presenting with cognitive impairment, motor signs, and leukodystrophy-like images.