Browsing by Author "Perić, S. (35750481700)"

Objective: We analyzed temporal and stride characteristics in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2) while performing dual mental and motor tasks, and investigated correlations between gait parameters and cognitive impairments. Method: Dual-task walking was performed by 37 patients (20 DM1 and 17 DM2) and 48 healthy subjects divided into two groups, age- and gender-matched control group for DM1 (HC1) and age- and gender-matched control group for DM2 (HC2). The subjects performed a basic walking task, dual-motor task, dual-mental task, and combined motor and mental task. Results: DM1 and DM2 patients differed significantly in temporal and stride characteristics compared to HC. Main differences in DM1 were slower gait and shorter stride length, while both DM1 and DM2 patients had a higher degree of variation of the swing time during dual-task gait, a parameter that reflects posture and balance. Impact of the cognitive dual task on gait pattern changes was also observed. Visuospatial ability correlated with gait changes in DM1, while executive functions had stronger influence in DM2 (p < 0.01). Both patient groups had leg muscle weakness. Conclusion: Gait pattern was impaired in both patient groups concerning temporal and stride characteristics. Dual-task walking paradigm may discover mild initial gait changes and could provide early identification of fall risks and predict possible falls in DM patients. © 2015 Elsevier B.V.

Objective: We analyzed temporal and stride characteristics in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2) while performing dual mental and motor tasks, and investigated correlations between gait parameters and cognitive impairments. Method: Dual-task walking was performed by 37 patients (20 DM1 and 17 DM2) and 48 healthy subjects divided into two groups, age- and gender-matched control group for DM1 (HC1) and age- and gender-matched control group for DM2 (HC2). The subjects performed a basic walking task, dual-motor task, dual-mental task, and combined motor and mental task. Results: DM1 and DM2 patients differed significantly in temporal and stride characteristics compared to HC. Main differences in DM1 were slower gait and shorter stride length, while both DM1 and DM2 patients had a higher degree of variation of the swing time during dual-task gait, a parameter that reflects posture and balance. Impact of the cognitive dual task on gait pattern changes was also observed. Visuospatial ability correlated with gait changes in DM1, while executive functions had stronger influence in DM2 (p < 0.01). Both patient groups had leg muscle weakness. Conclusion: Gait pattern was impaired in both patient groups concerning temporal and stride characteristics. Dual-task walking paradigm may discover mild initial gait changes and could provide early identification of fall risks and predict possible falls in DM patients. © 2015 Elsevier B.V.

[No abstract available]

[No abstract available]

Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically re-examined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles. © 2017, Springer-Verlag GmbH Germany.

Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically re-examined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles. © 2017, Springer-Verlag GmbH Germany.

Background: Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. Aim: To report the first Serbian family with a BSCL2 mutation showing variable expression within the family. Patients and methods: A 55-year-old woman presented with weakness of both hands at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in her legs. Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs. There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. Her 25 year-old son had only stiffness of both legs at the age of 22. Physical examination revealed only generalized hyporeflexia. The third affected member in this family was her 55 year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features. Results: In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities. Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients. Concentric needle EMG showed evidence of chronic denervation in distal muscles. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients. Conclusion: This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.

Background: Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin. Aim: To report the first Serbian family with a BSCL2 mutation showing variable expression within the family. Patients and methods: A 55-year-old woman presented with weakness of both hands at the age of 45. At age 47, she noticed distal muscle weakness and atrophy in her legs. Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs. There was generalized hyperreflexia with the exception of ankle reflexes which were diminished. Her 25 year-old son had only stiffness of both legs at the age of 22. Physical examination revealed only generalized hyporeflexia. The third affected member in this family was her 55 year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features. Results: In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities. Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients. Concentric needle EMG showed evidence of chronic denervation in distal muscles. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients. Conclusion: This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.

Aim - The aim of this study was to validate translated and cross-cultural adapted Italian version of myasthenia gravis-specific questionnaire (MGQ) in Serbian MG patients. Materials and Methods - The questionnaire was validated in 140 consecutive MG patients from Belgrade. In each patient association between the total MGQ score and form and severity of the disease was determined. Also, correlation between regional domain scores of MGQ and main clinical findings according to Besinger's clinical score was analyzed. Results - Patients' participation in the assessment was satisfactory with excellent internal consistency and reproducibility. Total MGQ score, as well as domain scores, correlated with highly significant inverse relationship with the disease severity and clinical status of patients at the moment of completing the questionnaire. Furthermore, the bulbar domain of the questionnaire appeared more specific and sensitive than clinical history and examination. Conclusion - We concluded that the Serbian version of the MGQ may be useful as a measure of clinical outcome in patients with MG. © 2009 Blackwell Munksgaard.

Aim - The aim of this study was to validate translated and cross-cultural adapted Italian version of myasthenia gravis-specific questionnaire (MGQ) in Serbian MG patients. Materials and Methods - The questionnaire was validated in 140 consecutive MG patients from Belgrade. In each patient association between the total MGQ score and form and severity of the disease was determined. Also, correlation between regional domain scores of MGQ and main clinical findings according to Besinger's clinical score was analyzed. Results - Patients' participation in the assessment was satisfactory with excellent internal consistency and reproducibility. Total MGQ score, as well as domain scores, correlated with highly significant inverse relationship with the disease severity and clinical status of patients at the moment of completing the questionnaire. Furthermore, the bulbar domain of the questionnaire appeared more specific and sensitive than clinical history and examination. Conclusion - We concluded that the Serbian version of the MGQ may be useful as a measure of clinical outcome in patients with MG. © 2009 Blackwell Munksgaard.