Background and Aims: Restless legs syndrome (RLS) is frequently reported in peripheral neuropathies, but its prevalence and clinical correlates in Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) remain poorly defined. We aimed to determine RLS prevalence in CMT1A and HNPP and to assess associations with disease severity, muscle strength, disability, and quality of life (QoL). Methods: Forty‐seven CMT1A and 18 HNPP patients were included. RLS was diagnosed according to the International Restless Legs Syndrome Study Group criteria, and RLS severity was assessed with the International Restless Legs Syndrome Severity Scale (IRLS‐SS). MRC Sum Score (MRC‐SS), Charcot–Marie‐Tooth Examination Score (CMTES), Overall Neuropathy Limitations Scale (ONLS), Beck Depression Inventory (BDI), Fatigue Severity Scale (FSS), and the 36‐Item Short Form Health Survey (SF‐36) were recorded. Results: RLS was present in 29.8% of CMT1A and 38.9% of HNPP patients. CMT1A patients with RLS had longer disease duration ( p = 0.05), worse muscle strength ( p = 0.014), higher disease severity ( p = 0.014), higher upper‐limb ( p = 0.005) and overall disability ( p = 0.011), and higher fatigue severity ( p = 0.011) compared with those without RLS. HNPP patients with RLS showed higher upper‐limb ( p = 0.034) and overall disability ( p = 0.032), higher depression ( p = 0.005), and fatigue severity ( p = 0.018) than those without RLS. QoL was significantly impaired in patients with RLS in both groups, and RLS severity negatively correlated with physical and mental QoL domains. Interpretation: RLS is common in CMT1A and HNPP and is associated with increased disease severity, greater functional disability, and reduced QoL. Clinicians should screen for RLS in PMP22 ‐related neuropathies and consider symptomatic management.

Introduction: Alzheimer's disease (AD) is a chronic neurodegenerative disease, which is clinically manifested by the development of dementia. Studies of genetic susceptibility to AD indicate a whole range of genes and their variants that can potentially influence an individual's susceptibility to develope the disease. AD17 represents a form of Alzheimer's disease associated with mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2. The aim of this study was to determine the frequency of R47H variant of the TREM2 gene in the population of AD patients, to compare the frequency of the variant in the population of AD patients and the control group, and to determine a possible association of a certain genotype with susceptibility to AD. Material and Methods: The study included 168 consecutive patients with AD and 190 healthy controls. The clinical inerview, neurologic examination, and neuropsychological set of cognitive assessment were performed by neurologists and neuropsychologists in expertise with neurodegenerative deseases. Genotyping of rs75932628, R47H polymorphism of the TREM2 gene was performed using Real-time Polymerase Chain Reaction and TaqMan® SNP genotyping assay (Applied Biosystem by Thermo Fisher Scientific, USA) according to the manufacturer's recommendations. Results: In the group of AD patients the frequency of C allele was 98.8%, while the T allele was present in 1.2% of patients. The frequency of the T allele was statistically significantly higher among the AD population than among the control group (p<0.05). The frequency of homozygotes without mutation (CC genotype) was 97.62%, while the frequency of heterozygotes for the mutation (CT genotype) was 2.38% among patients with AD, and the frequency of homozygotes without mutation (CC genotype) was 100% among healthy controls. Conclusion: Our study indicated a possible association of the heterozygous form of the R47H variant of TREM2 gene with the susceptibility for the deve-lopement of AD in Serbian population.

Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the DMPK gene. In a proportion of patients, the expanded allele contains variant repeats, which have been associated with later disease onset and different clinical presentation, although their full impact remains incompletely defined. We compared sociodemographic, neuromuscular, and multisystem clinical features between DM1 patients with pure CTG expansions (n = 66) and those with variant repeats (n = 9), who formed a consecutive cohort of unrelated index cases evaluated at the age of diagnosis in routine clinical practice. Patients with variant repeats were nine years older at diagnosis than patients with pure repeat expansions (p = 0.025), had more years of formal education (p = 0.024), and showed reduced muscle strength in proximal lower limbs (p = 0.049). No childhood or juvenile forms were observed among patients with variant repeats. Sex, disease duration, and most other clinical parameters, including multisystem involvement, did not differ between groups. The results of our exploratory study support variant repeats as disease modifiers in both age at onset and pattern of muscle involvement, and imply a two-sequential-component hypothesis in DM1 pathogenesis.