Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study.

INTRODUCTION/AIMS: Language is frequently affected in patients with sporadic amyotrophic lateral sclerosis (sALS), with reduced performance in naming, syntactic comprehension, grammatical expression, and orthographic processing. However, the language profile of patients with familial type 8 ALS (ALS8), linked to p.P56S VAPB mutation, remains unclear. We investigated language in patients with ALS8 by examining their auditory comprehension and verbal production. METHODS: We included three groups of participants: (1) patients with sALS (n = 20), (2) patients with familial ALS8 (n = 22), and (3) healthy controls (n = 21). The groups were matched for age, sex, and education level. All participants underwent a comprehensive language battery, including the Boston Diagnostic Aphasia Examination, the reduced Token test, letter fluency, categorical fluency (animals), word definition from the Cambridge Semantic Memory Research Battery, and a narrative discourse analysis. Participants also were evaluated using Addenbrooke's Cognitive Exam-Revised Version, the Hospital Anxiety and Depression Scale, and the ALS Functional Rating Scale-Revised. RESULTS: Compared to controls, sALS and ALS8 patients had impaired performance on oral (syntactic and phonological processing) comprehension and inappropriate discourse cohesion. sALS and ALS8 did not differ in any language measure. There was no correlation between language scores and functional and psychiatric scales. DISCUSSION: ALS8 patients exhibit language deficits that are independent of motor features. These findings are consistent with the current evidence suggesting that ALS8 has prominent non-motor features.

Hearts and Minds: Emotion Recognition and Mentalizing in Parkinson's Disease and Progressive Supranuclear Palsy.

OBJECTIVE: There are scarce data comparing Parkinson's disease (PD) and Progressive Supranuclear Palsy (PSP) in social cognition (SC). We aimed to compare patients with PSP and PD in SC. METHODS: We included three groups: PD (n = 18), PSP (n = 20) and controls (n = 23). Participants underwent neuropsychological exams, including the mini-version of the Social and Emotional Assessment, which is composed of the facial emotion recognition test (FERT) and the modified faux-pas (mFP) test, which assesses Theory of Mind (ToM). RESULTS: Patients with PD scored lower than controls in the FERT, but not in the mFP test. Patients with PSP performed worse than controls in both the mFP and FERT. PD and PSP groups did not differ in the FERT, but PSP performed worse than PD in the mFP test. The mFP test distinguished PSP from PD with 89% accuracy. CONCLUSION: The assessment of ToM may contribute to the differentiation between PD and PSP.

Genetics of Parkinson's disease in Brazil: a systematic review of monogenic forms.

BACKGROUND: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. OBJECTIVE: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. METHODS: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. RESULTS: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). CONCLUSIONS: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil's population had not been considered.

GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.

BACKGROUND: Mutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking. OBJECTIVE: We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools. METHODS: We included 76 probands diagnosed with behavioral-variant FTD (n=55), semantic-variant Primary Progressive Aphasia (PPA) (n=11), or nonfluent-variant PPA (n=10). Twenty-five percent of the cohort had at least 1 relative affected with FTD. RESULTS: Mutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations. CONCLUSIONS: The frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.

Pregnancy in patients with Sydenham's Chorea.

BACKGROUND: Sydenham's Chorea is a frequent cause of chorea during pregnancy, chorea gravidarum. The aim of this article is to describe the effect of pregnancy in a consecutive series of patients with diagnosis of Sydenham's Chorea. METHODS: A chart review was performed of all patients with the diagnosis of Sydenham's Chorea followed up at our institution from 07/1993 through 08/2010 and who became pregnant. RESULTS: From 66 patients, 20 became pregnant. Of these 20 patients, 15 (75%) developed chorea gravidarum. Generalized chorea was found in 67% of these 15 patients, focal or multifocal chorea was identified in 20% and 13.4% developed hemichorea. In 80% of cases chorea began in the first 6 months of gestation. Three women with previous persistent chorea experienced worsening of the movement disorder during pregnancy. Remission occurred after delivery in 11 patients whereas the other four remained with non-disabling chorea during the first 12 months after delivery. Abortion occurred in two patients (13%). All patients with chorea gravidarum subsequently treated with oral contraceptives developed recurrence of chorea. CONCLUSIONS: Chorea gravidarum is a frequent complication of pregnancy in patients with previous history of Sydenham's Chorea and an increased risk of miscarriage should be considered. Our findings confirm the notion that chorea gravidarum results from hormonal changes acting on previously dysfunctional basal ganglia.

Rhabdomyolysis after bariatric surgery by Roux-en-Y gastric bypass: a prospective study.

BACKGROUND: Obesity is a worldwide epidemic associated to comorbidities and increased mortality. Because it is chronic and recurrent and has little response to clinical measures, surgical treatment (bariatric surgery) is a therapeutic option frequently used. Different surgical complications have been associated with this type of procedure, but there is little knowledge about neuromuscular complications. Among the latter, rhabdomyolysis (RML), described a few years ago, has not been well characterized to date. METHODS: We have studied 22 consecutive patients who underwent surgical treatment with open Roux-en-Y gastric bypass (RYGBP) for morbid obesity in a university hospital. A database was created including the following information of each patient: gender, age, body mass index (BMI), comorbidities, surgical time, pre- and postoperative creatine phosphokinase (CPK) dosages, and neuromuscular symptoms after surgery. The main outcome measure was the frequency of RML using CPK dosage after 24 h of surgery. RML was diagnosed as an increase of more than five times the superior limit of normal range of CPK. RESULTS: Fourteen women and eight men were evaluated, with median age of 39.9+/-11.2 years, median BMI of 52.4+/-8.0 kg/m2 and mean surgical time of 253.2+/-51.9 min. The mean value of postoperative CPK was 7,467.7+/-12,177.1 IU/L, being greater than 5,000 IU/L in 40.9% of the patients. RML was diagnosed in 17 (77.3%) patients. No patient had renal failure caused by RML, but there was one death (4.5%) related to abdominal infectious complications. Clinical neuromuscular symptoms occurred in 45% of patients, and muscular pain was the most common one, especially in gluteus region. Comparative analyzes between patients without and with RML diagnosis showed that longer surgical time (p=0.005), and occurrence of neuromuscular symptoms (p=0.04) were more common in the latter. CONCLUSION: The results of this study are similar to few other investigations and confirm that RML in open bariatric surgery with RYGBP (Capella) is a common complication. A longer surgical time can be involved in RML pathogenesis, and muscular pain is suggestive of RML occurrence.

Parkinsonism associated with basal ganglia cryptococcal abscesses in an immunocompetent patient.

Currently, infectious agents are a rare cause of parkinsonism. We report on an immunocompetent patient with persistent parkinsonism associated with cryptococcal abscesses of the basal ganglia.

Schistosomal myelopathy mimicking spinal cord neoplasm.

We describe a 48-y-old male with chronic progressive myelopathy suggesting thoracic intramedullary neoplasm but in whom laboratory workup disclosed Schistosoma mansoni myelopathy. The case illustrates the need for careful investigation of schistosomiasis in patients from endemic regions with myeloradiculopathy signs.

Etiology of parkinsonism in a Brazilian movement disorders clinic

Objective: The aim of the present study is to investigate whether there are geographic differences in the etiology of parkinsonism (PA). Background: 72 percent of patients with PA evaluated at movement disorders clinics in the Northern Hemisphere are diagnosed with Parkinson's disease (PD). Data regarding other regions are not available. Methods: We reviewed the charts of all patients with PA seen at the Federal University of Minas Gerais Movement Disorders Clinic from July 1993 through October 1995. PA was diagnosed by the presence of at least two of the following: rest tremor, bradykinesia, rigidity, and postural instability. The different etiologies were diagnosed based on standard clinical criteria Results: During the period of the study, PA was recognized in 338 subjects. The following clinical diagnoses were made: PD (68.9 percent), drug-induced PA (DIP) (13,3 percent), vascular PA (4.7 percent), progressive supranuclear palsy (PSP) (2 percent), multiple system atrophy (MSA) (1.8 percent), others (9.7 percent). Cinnarizine, haloperidol and flunarizine were the commonest drugs related to DIP. Conclusions: Similarly to other studies, PD accounts for about 70 percent of PA patients. However, there are differences between our results and previous series. DIP is much more common in the present series. This may be accounted for a more liberal use of antidopaminergic drugs in our environment, especially Calcium channel blockers. The lower frequency of MSA and PSP in our study may reflect a short follow-up, since many patients initially diagnosed with PD later are found to have Parkinson-plus syndromes.