Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood-onset motor neuropathy and neurophysiology demonstrating variable motor conduction block and temporal dispersion. All individuals had a childhood onset tremor, 5 of 8 had cerebellar involvement, and 6 of 8 had childhood febrile seizures. All individuals have biallelic PIGG variants, including the previously reported pathogenic variant Trp505*, plus 6 novel variants. Null enzyme activity is demonstrated via PIGO/PIGG double knockout system for Val339Gly and Gly19Glu, and residual activity for Trp505* due to read-through. Emm negative blood group status was confirmed in 1 family. PIGG should be considered in unsolved motor neuropathy. ANN NEUROL 2024.

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously negative on the HSP gene panel were selected for the whole exome sequencing (WES). Further, 44 newly diagnosed adult HSP patients from 44 families were sent to WES directly, since many studies showed WES may be used as the first step in HSP diagnosis. WES analysis of cohort 1 revealed a likely genetic cause in five (56%) of nine HSP families, including variants in the ETHE1, ZFYVE26, RNF170, CAPN1, and WASHC5 genes. In cohort 2, possible causative variants were found in seven (16%) of 44 patients (later updated to 27% when other diagnosis were excluded), comprising six different genes: SPAST, SPG11, WASCH5, KIF1A, KIF5A, and ABCD1. These results expand the genetic spectrum of HSP patients in Serbia and the region with implications for molecular genetic diagnosis and future causative therapies. Wide HSP panel can be the first step in diagnosis, alongside with the copy number variation (CNV) analysis, while WES should be performed after.

Video head impulse gain is impaired in myotonic dystrophy types 1 and 2.

BACKGROUND AND PURPOSE: This study was undertaken to examine vestibulo-ocular reflex (VOR) characteristics in myotonic dystrophy type 1 (DM1) and type 2 (DM2) using video head impulse testing (vHIT). METHODS: VOR gain, refixation saccade prevalence, first saccade amplitude, onset latency, peak velocity, and duration were compared in DM1, DM2, age-matched normal controls, and patients with peripheral and central vestibulopathies. RESULTS: Fifty percent of DM1 and 37.5% of DM2 patients demonstrated reduced VOR gain. Refixation saccade prevalence for horizontal canal (HC) and posterior canal (PC) was significantly higher in DM1 (101 ± 42%, 82 ± 47%) and DM2 (70 ± 45%, 61 ± 38%) compared to controls (40 ± 28% and 43 ± 33%, p < 0.05). The first saccade amplitudes and peak velocities were higher in HC and PC planes in DM1 and DM2 compared to controls (p < 0.05). HC slow phase eye velocity profiles in DM1 showed delayed peaks. The asymmetry ratio, which represents the percentage difference between the first and second halves of the slow phase eye velocity response, was therefore negative (-22.5 ± 17%, -2.3 ± 16%, and - 4.7 ± 8% in DM1, DM2, and controls). HC VOR gains were lower and gain asymmetry ratio was larger and negative in patients with DM1 with moderate to severe ptosis and a history of imbalance and falls compared to the remaining DM1 patients (p < 0.05). In peripheral vestibulopathies, saccade amplitude was larger, peak velocity was higher, and onset latency was shorter (p < 0.05) than in DM1. In central vestibulopathy (posterior circulation strokes), saccade peak velocity was higher, but amplitude and onset latency were not significantly different from DM1. CONCLUSIONS: VOR impairment is common in DM1 and DM2. In DM1, refixation saccade characteristics are closer to central than peripheral vestibulopathies. Delayed peaks in the vHIT eye velocity profile observed in patients with DM1 may reflect extraocular muscle weakness. VOR impairment and VOR asymmetry in DM1 are associated with imbalance and falls.

Chronic inflammatory demyelinating polyradiculoneuropathy: Diagnostic problems in clinical practice in Serbia.

Making diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is challenging since it can mimic a multitude of disorders, and is misdiagnosed in at least 50% of cases. We sought to determine the frequency of CIDP misdiagnosis in clinical practice in Serbia, to uncover CIDP mimics, and to identify factors that may aid in CIDP diagnosis. Our longitudinal retrospective cohort study included 86 eligible adult patients referred to the Neurology Clinic, University Clinical Centre of Serbia, with a diagnosis of CIDP. We also included 15 patients referred to us with different diagnoses that ended up having CIDP as their final diagnosis. Exactly half of patients referred as CIDP failed to meet the established diagnostic criteria (non-CIDP) and were given an alternative diagnosis at the first hospitalization. At the 1-year follow-up, the diagnosis was further revised in four subjects. Confirmed CIDP patients usually had their initial diagnosis based on the nerve conduction studies (NCS), a typical presentation with symmetrical involvement of all four limbs, as well as higher frequencies of elevated protein levels and albuminocytologic dissociation in the cerebrospinal fluid (CSF). CIDP patients also responded better to immune therapy. We found that 52% of the patients initially referred to our Clinic as CIDP were given other diagnoses after a 1-year follow-up. Out of all CIDP cases, 27% had been unrecognized prior to referral to our Center. Utilization of clear and objective indicators - conclusive NCS, improvement on therapy, and elevated CSF proteins may provide greater certainty in diagnosing CIDP.

Clinical score for early diagnosis of myotonic dystrophy type 2.

INTRODUCTION: Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed. OBJECTIVE: The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS). PATIENTS AND METHODS: Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained from the electronic medical records. RESULTS: The following parameters appeared as significant predictors of DM2 diagnosis: cataracts (beta = 0.410, p < 0.001), myotonia on needle EMG (beta = 0.298, p < 0.001), hand tremor (beta = 0.211, p = 0.001), positive family history (beta = 0.171, p = 0.012), and calf hypertrophy (beta = 0.120, p = 0.043). In the final DM2-EDS, based on the beta values, symptoms were associated with the following values: cataracts (present 3.4, absent 0), myotonia (present 2.5, absent 0), tremor (present 1.7, absent 0), family history (positive 1.4, negative 0), and calf hypertrophy (present 1.0, absent 0). A cut-off value on DM2-EDS of 3.25 of maximum 10 points had a sensitivity of 84% and specificity of 81% to diagnose DM2. CONCLUSION: Significant predictors of DM2 diagnosis in the neurology outpatient unit were identified. We made an easy-to-administer DM2-EDS score for early diagnosis of DM2.

Myotonic dystrophy type 1 in the COVID-19 era.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk population for respiratory infections, including COVID-19. Our aim was to evaluate the characteristics of COVID-19 infection and vaccination rate in DM1 patients. METHODS: This cross-sectional cohort study included 89 patients from the Serbian registry for myotonic dystrophies. Mean age at testing was 48.4 ± 10.4 years with 41 (46.1%) male patients. Mean duration of the disease was 24.0 ± 10.3 years. RESULTS: COVID-19 infection was reported by 36 (40.4%) DM1 patients. Around 14% of patients had a more severe form of COVID-19 requiring hospitalization. The severity of COVID-19 was in accordance with the duration of DM1. A severe form of COVID-19 was reported in 20.8% of patients who were not vaccinated against SARS-CoV-2 and in none of the vaccinated ones. The majority of 89 tested patients (66.3%) were vaccinated against SARS-CoV-2. About half of them (54.2%) received three doses and 35.6% two doses of vaccine. Mild adverse events after vaccination were recorded in 20.3% of patients. CONCLUSIONS: The percentage of DM1 patients who suffered from COVID-19 was like in general population, but with more severe forms in DM1, especially in patients with longer DM1 duration. The study indicated an overall favorable safety profile of COVID-19 vaccines among individuals with DM1 and its ability to protect them from severe COVID-19.

Galactosylation of serum immunoglobulin G in myasthenia gravis with different autoantibodies.

Myasthenia gravis (MG) is a disease with impaired transmission at the neuromuscular junction, characterised by weakness and fatigability of skeletal muscles. In acquired autoimmune MG, antibodies against acetylcholine receptor (AChRAb) or muscle-specific tyrosine kinase (MuSKAb) are present. There is not much data about immunoglobulin G (IgG) galactosylation in MG, and none based on interactions with lectins. This study aims to examine IgG galactosylation in two types of myasthenia, using affinity immunoelectrophoresis with lectin concanavalin A (Con A). Affinity of Con A-IgG interaction, expressed as retardation coefficient (R), indicated the presence of degalactosylated IgG. The average R values were significantly different between three examined groups, being the lowest in controls (healthy subjects), higher in acetylcholine receptor (AChR) MG, and the highest in muscle-specific tyrosine kinase (MuSK) MG (ANOVA, p < .05). This indicated decreased galactosylation of IgG in both types of MG compared to controls, more pronounced in MuSK MG. IgG galactosylation was also investigated in relation to the disease severity score, determined according to the Myasthenia Gravis Foundation of America (MGFA) criteria, at the time of diagnosis, nadir of the disease and last check-out visit. The average R values for mild disease (stages I-IIIa) were significantly lower than for severe disease (stages IIIb-V), both at the time of diagnosis (p < .05), and at the nadir of the disease (p < .05). Thus, IgG galactosylation was associated with the presence of specific autoantibodies in MG, as well as with disease severity for both types of MG, and may be a predictive marker of MG outcome.

Myasthenia gravis treated in the neurology intensive care unit: a 14-year single-centre experience.

INTRODUCTION: Severe myasthenia gravis (MG) exacerbation with respiratory failure and/or dysphagia usually requires monitoring and treatment in the neurology intensive care unit (NICU). The aim of our study was to identify all patients with severe MG exacerbation treated in the NICU in order to assessed potential factors affecting patients' need for mechanical ventilation, occurrence of complications and the final outcome. METHODS: We retrospectively included all patients with severe exacerbation of MG who required management in the NICU during a 14-year period. Baseline sociodemographic and clinical features, data on medication, comorbidities and outcome were obtained by reviewing medical records and institutional databases. RESULTS: Our study comprised 130 severe MG exacerbations detected in 118 patients. Median age of patients was 61.5 years, and women accounted for 58.5% of the patients. Half of the patients required mechanical ventilation during hospitalization. Lethal outcome was observed in 12.3% of severe MG exacerbations. Only elder age was an independent negative predictor of survival (OR 0.89, 95% CI 0.82-0.97, p < 0.01). Complications during hospitalization were detected in 50% of patients. A higher number of comorbidities (OR 1.09, 95% CI 1.60-2.35, p = 0.01) and mechanical ventilation (OR 28.48, 95% CI 8.56-94.81, p < 0.01) were independent predictors of complications during hospitalization. CONCLUSION: Patients with a severe MG exacerbation who do not require mechanical ventilation have a good outcome after treatment in the NICU. Elder age is an independent predictor of lethal outcome in patients with severe MG exacerbation. Mechanical ventilation and a higher number of comorbidities lead to more frequent complications.

Guillain-Barré syndrome during pregnancy: A case series.

Guillain-Barré syndrome (GBS) in pregnancy may be a serious disease associated with high maternal and perinatal morbidity and mortality. Herein, we present the long-term maternal and fetal outcomes of five pregnant GBS patients from our center. The mean age of pregnant GBS patients was 29.8 ± 3.1. Two patients had a severe disability at admission. Three patients were treated with intravenous immunoglobulins, while the remaining two were treated with symptomatic therapy. One year after disease onset, one patient had a mild disability, while the remaining four had normal neurological findings. All babies born were healthy and developed normally. GBS in pregnancy may affect both maternal and neonatal outcomes. Early diagnosis and treatment are essential for the outcome. Most patients and their babies have a favorable long-term outcome.

VALIDATION OF THE BRIEF INTERNATIONAL COGNITIVE ASSESSMENT FOR MULTIPLE SCLEROSIS (BICAMS) IN A LARGE COHORT OF RELAPSING-REMITTING MS PATIENTS.

Cognitive impairment is one of the most frequently reported symptoms in persons with multiple sclerosis (MS). The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) has been recommended as a standardized international screening and monitoring tool for brief cognitive assessment. The aim of our study was to assess the reliability and validity of the Serbian version of the BICAMS. A total of 500 relapsing-remitting MS (RRMS) patients and 69 age-, gender- and education-matched healthy control (HC) subjects were examined. All participants performed the BICAMS test battery, which includes the oral version of the Symbol Digit Modalities Test (SDMT), California Verbal Learning Test second edition (CVLT-II), and Brief Visuospatial Memory Test Revised (BVMTR). A randomly selected subset of patients were retested one to three weeks after baseline. Statistically significant differences between patients and HCs were evident on the SDMT and BVMTR (p<0.001). HCs had higher CVLT-II scores but this difference did not reach statistical significance (p=0.063). Cognitive impairment, defined as an abnormal test score on ≥1 subtest, was found in 62.9% of MS patients. There were statistically significant correlations between BICAMS scores and age, education, EDSS and disease duration in patient sample. Test-retest reliability was confirmed with Pearson correlation coefficient of 0.70 in all measures. This study supported the reliability and validity of the Serbian BICAMS, although the CVLT-II version tested here lacked sensitivity to detect MS compared to healthy volunteers.

Antecedent infections and vaccinations in chronic inflammatory demyelinating polyneuropathy: A European collaborative study.

INTRODUCTION/AIMS: Chronic inflammatory demyelinating polyneuropathy (CIDP) may be rarely preceded by infection. A causative link remains unproven, in contrast to Guillain-Barré syndrome (GBS), which is commonly postinfectious with well-demonstrated pathophysiological mechanisms of molecular mimicry following Campylobacter jejuni enteritis. Uncommonly, infections are reported before the onset of CIDP. In this study we aimed to determine the frequency and characteristics of CIDP occurring after antecedent infections or vaccinations in two large European cohorts. METHODS: We reviewed the records of 268 subjects with "definite" or "probable" CIDP from the Inflammatory Neuropathy Clinic, Birmingham, UK (129 subjects), and from the Serbian national CIDP database (139 subjects). RESULTS: Twenty-five of 268 (9.3%) subjects had a respiratory or gastrointestinal infection in the 6 weeks preceding CIDP onset, and 3 of 268 (1.1%) had received an influenza vaccination. CIDP disease onset occurred at a younger age (mean [standard deviation], 44.25 [17.36] years vs 54.05 [15.19] years; P < .005) and acute-onset CIDP was more common (42.9% vs 12.1%; odds ratio, 5.46; 95% confidence interval, 2.35-12.68; P < .001) in subjects with preceding infections or vaccinations. No differences in CIDP subtype, rates of cerebrospinal fluid protein level elevation, disability, or likelihood of treatment response, were observed. DISCUSSION: Antecedent infections or vaccinations may precede about 10% of cases of CIDP and are more common in younger subjects. Acute-onset CIDP is more frequent after antecedent events. These findings may suggest specific pathophysiological mechanisms in such cases.

Psychometric longitudinal evaluation of the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) in patients with chronic inflammatory demyelinating polyneuropathy.

BACKGROUND: We studied the performance of a 15-item, health-related quality-of-life polyneuropathy scale in a longitudinal study of patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Sixty-one patients with CIDP completed the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) scale and Patient Impression of Change (PIC) at baseline and follow-up visits. Clinicians completed Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores at baseline and follow-up visits. Conventional and modern psychometric analyses were performed on the completed forms. RESULTS: CAPPRI was psychometrically stable between visits without significant difference in response pattern between visits 1 and 2 (paired t-test P = .72). There was strong correlation between changes in INCAT and changes in CAPPRI scores between two visits (rho = 0.6, P < .001). In addition, we showed robust CAPPRI effect sizes between PIC categories. CONCLUSIONS: We demonstrated psychometric stability and construct longitudinal validity of CAPPRI.

Prospective analysis of disability and quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

PURPOSE: Even treated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) continues to pose a significant burden in patients' everyday functioning and may continuously affect their quality of life (QoL). The aims of our prospective study were to analyze health-related QoL in CIDP patients during a 1-year follow-up period in real-life settings and to compare QoL changes with changes in disability and with patient impression of change. METHODS: The study comprised 59 patients diagnosed with CIDP. SF-36 questionnaire was applied in order to evaluate patients' QoL. Inflammatory neuropathy cause and treatment (INCAT) disability scale was used to assess patients' functionality. The second question from the SF-36 questionnaire was used as an estimation of the patient impression of change (PIC) after 1 year. RESULTS: SF-36 scores did not change over time in the group as a whole. According to INCAT disability scores, worsening was registered in 24 (40%) patients and improvement in 8 (14%). Fifteen (25%) patients reported worsening and the same number reported improvement, according to PIC. Concordant results on INCAT and PIC were registered in 49% of patients. Pooled SF-36 scores moderately correlated with pooled INCAT disability scores (rho = - 0.27 to - 0.59, p < 0.01). One-year changes of SF-36 scores did not differ when compared to different INCAT outcomes (worsening, stable, improvement). On the other hand, significant changes of SF-36 scores in different outcome groups according to PIC (worsening, stable, improvement) were noted (p < 0.01). CONCLUSION: INCAT, PIC, and SF-36 are complementary outcome measures that provide neurologists with useful items of information. We propose complementary use of these scales in CIDP patients in everyday clinical practice in order to detect worsening of the disease and/or of related symptoms on time.

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.

Myotonic dystrophy type 1 (DM1) is one of the most variable monogenic diseases at phenotypic, genetic, and epigenetic level. The disease is multi-systemic with the age at onset ranging from birth to late age. The underlying mutation is an unstable expansion of CTG repeats in the DMPK gene, varying in size from 50 to >1000 repeats. Generally, large expansions are associated with an earlier age at onset. Additionally, the most severe, congenital DM1 form is typically associated with local DNA methylation. Genetic variability of DM1 mutation is further increased by its structural variations due to presence of other repeats (e.g., CCG, CTC, CAG). These variant repeats or repeat interruptions seem to confer an additional level of epigenetic variability since local DNA methylation is frequently associated with variant CCG repeats independently of the expansion size. The effect of repeat interruptions on DM1 molecular pathogenesis is not investigated enough. Studies on patients indicate their stabilizing effect on DMPK expansions because no congenital cases were described in patients with repeat interruptions, and the age at onset is frequently later than expected. Here, we review the clinical relevance of repeat interruptions in DM1 and genetic and epigenetic characteristics of interrupted DMPK expansions based on patient studies.

Chronic inflammatory demyelinating polyneuropathy associated with diabetes: a European multicentre comparative reappraisal.

INTRODUCTION: The association between chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes is uncertain despite important diagnostic and management implications. METHODS: We retrospectively analysed two European cohorts, totaling 257 patients with 'definite' or 'probable' CIDP, from Serbia and Birmingham, UK. RESULTS: Diabetes was present at CIDP diagnosis in 25/139 (18%) subjects in the Serbian cohort and in 23/118 (19.5%) in the UK cohort. In both cohorts, diabetes prevalence was higher than local general population prevalence rates (RR: 2.09; 95% CI 1.39 to 2.95 and RR: 2.22; 95% CI 1.46 to 3.17, respectively). Considering typical CIDP only, diabetes prevalence was greater than expected in both cohorts (RR: 2.58; 95% CI 1.60 to 3.82 and RR: 2.68; 95% CI 1.71 to 3.87, respectively). CIDP with diabetes occurred later in life than CIDP without diabetes (58.96 years, SD: 11.09 vs 51.71 years, SD: 16.02; p=0.003) and presented more frequently in the typical form than in patients without diabetes (79.2% vs 61.2%; p=0.02). Baseline Inflammatory Neuropathy Cause and Treatment disability scores were similar in patients with and without diabetes (p=0.90). Proportions of treatment responders were similar in both groups (70% vs 74.9%; p=0.65), as were response amplitudes (p=0.87). DISCUSSION: Our results, both for all CIDP and typical CIDP presentations, support a twofold increased relative risk of diabetes compared with the general population. CIDP with diabetes appears to present older and more frequently in the typical form, as compared with CIDP without diabetes. CIDP with diabetes appears similar to CIDP without diabetes in disability levels at diagnosis and probability, as well as amplitude of treatment response.

Incidence and mortality rates of Guillain-Barré syndrome in Serbia.

Guillain-Barré syndrome (GBS) is an acute auto-immune polyradiculoneuropathy. A huge variety of GBS incidence and mortality rates has been noted across the world. The objective of the present multi-centric study was to assess the incidence and mortality rates of GBS during a 10-year period in Serbia. We collected data of adult GBS patients who were hospitalized from 2009 to 2018 in all five tertiary healthcare centers in Serbia. The incidence rates per 100 000 inhabitants with 95% confidence intervals (CI) were calculated and further corrected for the estimated number of patients hospitalized in secondary centers. Mortality rates were also assessed. GBS was considered severe if patients were not able to walk at least 10 m without assistance. Six hundred and forty GBS patients were registered in tertiary centers in a 10-year period. The proportion of severe cases was 75% at nadir, and 52% on discharge. GBS incidence rate in Serbia was 1.1 per 100 000 inhabitants, and estimated incidence if patients from secondary centers included 1.2 per 100 000. Peak incidence was observed during the sixth decade of life. During the acute phase, 5.6% of GBS patients died, while overall 9.7% of them died during 6-month period from disease onset. This study contributes to our knowledge about GBS epidemiology. Results will allow us to improve the diagnosis and treatment of GBS patients in Serbia.

Six-month prospective study of quality of life in Guillain-Barre syndrome.

OBJECTIVE: Guillain-Barre syndrome (GBS) is an acute disease of the peripheral nerves and their roots. Quality of life (QoL) in the first year after acute episode of GBS is still underresearched area. The aim of our study was to investigate QoL in GBS patients during a 6-month follow-up period. METHODS: Multicentric, prospective study included 74 adult patients with GBS (54% males). GBS disability scale (GDS) was used to assess functional disability (severe disability GDS > 2), and Individualized Neuromuscular Quality of Life Questionnaire (INQoL) to asses QoL. Patients were tested on day 14, day 28, month 3, and month 6 from symptom onset. RESULTS: Disability as measured by GDS improved during time (P < .01). INQoL scores also improved during time (P < .01) but were not able to differentiate between day 14 and day 28, and some scores also did not make difference between month 3 and 6 (pain, social relations, emotions and total INQoL score; P > .05). Pooled GDS scores correlated with pooled INQoL scores, especially with independence, activities, and weakness subscores (P < .01). Multiple linear regression analysis showed that GDS at day 14 (ß = .52, P < .01) and fatigue score at day 14 (ß = .41, P < .01) were independent predictors of the worse GDS at month 6 (adjusted R2  = .34, P < .01 for overall model). CONCLUSIONS: During a 6-month follow-up period of GBS patients, we observed a gradual recovery of patients' disability and QoL. Our study confirms the importance of patient-reported outcomes and their ability to capture some important issues that are omitted by classic ability measures such as GDS.

Neuropathic pain in patients with Charcot-Marie-Tooth type 1A.

BACKGROUND: Only several studies analyzed the characteristics of neuropathic pain (NeP) more extensively in patients with Charcot-Marie-Tooth type 1A (CMT1A). Therefore, we sought to determine the frequency and features of NeP in CMT1A patients and to assess the association between NeP and sociodemographic and clinical characteristics of patients with CMT1A. METHODS: Our research included 51 genetically diagnosed CMT1A patients. The International Association for the Study of Pain (IASP) criteria were used for diagnosis of NeP. PainDETECT questionnaire (PD-Q) was used to assess NeP features. The Medical Research Council (MRC) Sum Score, CMT Neuropathy Score (CMTNS), Overall Neuropathy Limitation Scale (ONLS) score, and Beck Depression Inventory were also used. RESULTS: NeP was present in 15 (29.4%) patients with CMT1A. The average intensity of pain was 5.7 ± 2.2 out of 10. The most sensitive neuropathic symptoms were numbness, then tingling, and burning sensations, while the most specific symptom was allodynia. Patients with NeP more frequently reported pain in the back (p < 0.01) and the trunk (p < 0.05). Patients with NeP had more pronounced disability of the upper extremities and overall disability, as assessed by the ONLS score (p < 0.05). Depression was more frequent in patients with NeP compared with patients without NeP (66.7 to 13.9%, p < 0.01). CONCLUSION: NeP was present in almost one-third of the patients with CMT1A and it was moderate on average. Presence of NeP was associated with worse functional disability and depression.

Chronic Acquired Polyneuropathy Patient Reported Index (CAPPRI) in chronic inflammatory demyelinating polyradiculoneuropathy.

To date there are only two validations on the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) questionnaire, both originated from the North America. We sought to translate and validate CAPPRI for use in Serbian patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We included 109 CIDP patients. CAPPRI, short form (36) health survey (SF-36), Medical Research Council Sum Score (MRC-SS), Inflammatory Neuropathy Cause and Treatment (INCAT) sensory and disability scores, Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used. Serbian CAPPRI questionnaire was understandable and the language was appropriate and simple. Calculation demonstrated good person (0.9) and item (0.9) reliability with adequate item (4.1), and person (2.9) separation indices. There was a minor floor effect (13.8%), and no ceiling effect. All items had good fit, except items 2 (pain), 5 (sleeping), and 14 (eating) to some degree. Category responses were well ordered and organized, except item 14 (eating). The CAPPRI score did not vary regarding gender, age, or education. Patients with worse scores on MRC-SS, INCAT sensory score, INCAT disability score, FSS, and BDI had worse scores on CAPPRI (P < .01). The CAPPRI score showed strong correlation with the SF-36 score (rho = -0.76, P < .01). The Serbian version of the CAPPRI is reliable and valid patient-reported index for patients with CIDP, able to differentiate between levels of impairment and disability in this disease.

Validation of the Serbian version of inflammatory Rasch-built overall disability scale in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Inflammatory Rasch-built overall disability scale (I-RODS) seems to be a valid activity measure for use in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to translate and validate the I-RODS for use in CIDP patients from Serbia. Study comprised 83 patients diagnosed with CIDP. I-RODS was translated and cross-culturally validated using the standard guidelines. Following scales were also administered: Medical Research Council (MRC) sum score, Inflammatory Neuropathy Cause and Treatment (INCAT) sensory and disability scores, Krupp's Fatigue Severity Scale, Beck Depression Inventory, Visual Analogue Scale for pain, and health survey-36 (SF-36) as a quality of life measure. According to the I-RODS, significant proportion of our patients reported that "running" (51%), "dancing" (41%), and "standing for hours" (40%) were impossible tasks to perform, while "teeth brushing" (94%), "eating" (88%), and "reading a newspaper/book" (82%) were noted as the easiest items. Patients with more muscle weakness (lower MRC sum score) and more severe INCAT sensory score had lower I-RODS score (P < .01). Also, patients with fatigue, depression and pain had lower I-RODS scores (P < .01). I-RODS score correlated with the INCAT disability score (P < 0.01) was 78 ± 19 compared to 51 ± 30 in patients with INCAT >1 (P < .01). I-RODS score correlated with the total SF-36 score (rho = +0.73, P < .01), as well as with all SF-36 domain scores. Serbian version of the I-RODS seems to be a valid activity measure for use in CIDP patients. I-RODS was able to assess different levels of disability, it was in association with impairment measures, INCAT disability scale and quality of life. Further studies are needed to assess its responsiveness.