GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Efficacy of Botulinum toxin type A in treatment of different forms of focal dystonias in the Serbian population: Experience of the Botulinum Toxin Outpatients Department
    National Library of Serbia ; 2015
    In:  Military Medical and Pharmaceutical Journal of Serbia Vol. 72, No. 12 ( 2015), p. 1069-1073
    Details
    In: Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 72, No. 12 ( 2015), p. 1069-1073
    Abstract: Background/Aim. Botulinum toxin (BTX) irreversibly inhibits presynaptic acetylcholine release with subsequent relaxation of abnormally contracting muscles. It is an effective and well tolerated treatment with long-term benefit in a variety of movement disorders and other neurological and non-neurological disturbances. The aim of our study was to present our experience with BTX type A in treatment of different forms of focal dystonias. ?ethods. ? hundred of patients with different focal dystonias (spastic torticollis, blepharospasm and graphospasm) from the Botulinum Toxin Outpatients Department, Clinic for Neurology, Clinical Center of Serbia, were included in the study. All the patients were examined and rated at baseline visit prior to BTX application and on the following visit, after 3-4 months, using self-assessment improvement questionnaire and standardized rating scales. Results. The improvement of ? 50% was presented in 68.2% of all (199) the analyzed applications. Independent predictors of good response to the therapy (improvement ? 50%) were male sex (p = 0.011), the presence of sensory trick (p = 0.013) and the total number of BTX applications (p = 0.002). The patients with spastic torticollis and blepharospasm showed a statistically significantly better BTX effect (improvement 57.3 ? 27.5% and 54.1 ? 28.3%), respectively than the graphospasm group (26.7 ? 25.6%). Most of the patients did not have therapy complications (81.4% and 72% in two applications). Side effects in the remaining patients (muscle weakness, dysphagia, ptosis, double vision, neck weakness and lacrimal dysfunction) lasted for 28.3 ? 18.6 days after the first treatment and 32.5 ? 36.2 days after the second one. Conclusion. BTX is safe and highly effective in long-term treatment of patients with different forms of focal dystonia, with only mild and well-tolerated side-effects.
    Type of Medium: Online Resource
    ISSN: 0042-8450 , 2406-0720
    URL: Article
    DOI: 10.2298/VSP131224114T
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2015
    detail.hit.zdb_id: 2169819-3
    detail.hit.zdb_id: 123795-0
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Botulinum toxin efficacy in the treatment of patients with spasmodic dysphonia
    National Library of Serbia ; 2007
    In:  Military Medical and Pharmaceutical Journal of Serbia Vol. 64, No. 10 ( 2007), p. 671-675
    Details
    In: Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 64, No. 10 ( 2007), p. 671-675
    Abstract: Uvod/Cilj. Spazmodicna disfonija (SD) je onesposobljavajuci poremecaj govora koji nastaje kao posledica distonicke kontrakcije glasnica, cije epizodicno javljanje u larinksnim misicima dovodi do prekidanja vokalne funkcije. Kvalitet zivota ovih bolesnika znacajno je narusen, a medikamentna i hirurska terapija su se pokazale neadekvatnim i neuspesnim, te nisu obezbedjivale kontinuirano poboljsanje. Tek se primena botulinskog toksina u glasnice pokazala efikasnom, a poboljsanje je konstatovano kod 80?100% bolesnika. Cilj ovog rada bio je da se proceni efikasnost primene botulinskog toksina u lecenju bolesnika sa spazmodicnom disfonijom. Metode. Grupu bolesnika cinilo je 10 obolelih sa adduktorskom formom spazmodicne disfonije. Posle postavljanja dijagnoze kod svih bolesnika injiciran je botulinski toksin u jednu ili obe glasnice u dozi 12-16 U u svaku glasnicu. U nasoj studiji koristili smo indirektoskopsku tehniku injiciranja botulinskog toksina. Perceptivna analiza glasa i govora pre i posle instilacije botulinskog toksina vrsena je prema strukturisanoj Skali patoloskih karakteristika glasa i govora kod spazmodicne disfonije. Rezultati. Kod vecine nasih bolesnika primena botulinskog toksina dovela je do subjektivnog poboljsanja i podizanja kvaliteta zivota, sto su sami bolesnici procenili kao znacajno (t = 3,562; p = 0,006). Perceptivnom analizom glasa i govora posle instilacije botulinskog toksina kod nasih bolesnika ustanovljene su statisticki znacajne promene parametara kao sto su napetost, promena visine glasa i registar glasa (t = 3,161; p = 0,012). Zakljucak. I pored nedvosmisleno znacajnog poboljsanja fonacije, dalja restitucija funkcije zahteva individualnu vokalnu terapiju i psihoterapiju. Neophodna su dalja istrazivanja koja bi definisala standardizovanu terapijsku proceduru u lecenju bolesnika sa spazmodicnom disfonijom, a koja sigurno podrazumeva multidisciplinarni pristup u dijagnostici, terapiji i evaluaciji efekata terapije.
    Type of Medium: Online Resource
    ISSN: 0042-8450 , 2406-0720
    URL: Article
    DOI: 10.2298/VSP0710671S
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2007
    detail.hit.zdb_id: 2169819-3
    detail.hit.zdb_id: 123795-0
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Oxidized LDL and lipids as risk factors for ischemic heart disease in type 2 diabetes
    National Library of Serbia ; 2005
    In:  Military Medical and Pharmaceutical Journal of Serbia Vol. 62, No. 7-8 ( 2005), p. 529-536
    Details
    In: Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 62, No. 7-8 ( 2005), p. 529-536
    Abstract: Uvod. Poremecaj lipidnog statusa u krvi znacajan je faktor rizika koji dovodi do arterioskleroticnih promena na velikim krvnim sudovima kod bolesnika sa dijabetes melitusom tip 2 (T2D). Faktori koji doprinose disfunkciji endotelnih celija koje doprinose nastanku arterioskleroze ukljucuju i oksidativni stres. Cilj istrazivanja bio je da se analizuje odnos lipida i oksidativnog stresa kod bolesnika sa T2D, kao i da se uporedi taj odnos izmedju obolelih od dijabetesa sa ishemijskom bolesti srca (IBS) i bez nje. Metode. Ispitivanje je izvrseno kod 80 bolesnika sa T2D: kod 40 bolesnika sa IBS i kod 40 bez IBS (grupe A1 i A2) i kod 51 bolesnika sa IBS bez dijabetesa (grupa B1 - 31 bolesnik) i kod 20 zdravih osoba (grupa B2). Mereni su trigliceridi (Tg), ukupni i HDL holesterol, lipoprotein a (Lp a) i apoprotein A I, A II, B 100 i E, a vrednost LDL holesterola je izracunavana. Za odredjivanje oksidativnog stresa mereni su oksidovani LDL (oxLDL), aktivnosti eritrocitnih enzima: superoksid dizmutaze i glutation peroksidaze (E-SOD i E-GPx), ukupna antoksidansna aktivnost seruma (TAS), kao i C-reaktivni protein (CRP) i fibrinogen kao markeri inflamacije. Rezultati. Vrednosti lipida se nisu razlikovale u grupama A1, A2 i B1, ali su bile vise u odnosu na kontrolnu grupu. Grupa B1 je imala visi Lp a u odnosu na ostale grupe (p 〈 0,05). OxLDL je u grupama A1, A2 i B1 bio je slican, ali visi nego kod zdravih. Kod dijabeticara oxLDL je bio u korelaciji sa ukupnim, LDL i non HDL holesterolom, apo B 100, kao i sa odnosima LDL/HDL, Tg/HDL (p 〈 0,001), Tg i fibrinogenom (p 〈 0,05). U grupi B1 oxLDL je bio u korelaciji sa ukupnim holesterolom, Tg (p 〈 0,01), LDL i non HDL holesterolom (p 〈 0,05) i sa apo B100 (p 〈 0,001). Nije bilo razlike u antioksidativnoj aktivnosti u grupama A1 i A2, kao ni u nivou CRP, ali je fibrinogen bio visi u grupi A1 (p 〈 0,05). U grupi B1 akivnost E-SOD je bila niza (p 〈 0,05) nego kod obolelih od dijabetesa, dok je CRP bio visi (p 〈 0,05). Korelacije izmedju oxLDL i CRP kod obolelih od dijabetesa nisu bile znacajne, ali jesu u grupi B1 (p 〈 0,05). Zakljucak. Vrednosti lipida su bile slicne kod obolelih od dijabetesa sa IBS ili bez njega, a bile su vise u odnosu na zdrave, kao i oksidativni stres. Oboleli od dijabetesa sa IBS su imali visi fibrinogen, ali ne i CRP u poredjenju sa obolelima od dijabetesa bez IBS. Oni bolesnici koji nemaju dijabetes sa IBS imali su visok nivo oxLDL, snizenu antioksidativnu aktivnost E-SOD i visok nivo CRP.
    Type of Medium: Online Resource
    ISSN: 0042-8450 , 2406-0720
    URL: Article
    DOI: 10.2298/VSP0508529Z
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2005
    detail.hit.zdb_id: 2169819-3
    detail.hit.zdb_id: 123795-0
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Botulinum toxin in the treatment of sialorrhea
    National Library of Serbia ; 2009
    In:  Military Medical and Pharmaceutical Journal of Serbia Vol. 66, No. 1 ( 2009), p. 9-12
    Details
    In: Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 66, No. 1 ( 2009), p. 9-12
    Abstract: Uvod/Cilj. Botulinski toksin A (BTX-A) blokira oslobadjanje acetilholina iz motornih i autonomnih nervnih zavrsetaka, te moze znatno da umanji stvaranje pljuvacke kada se ordinira intraglandularno. Cilj ove studije bio je da se utvrde efekti primene BTX-A u lecenju sijaloreje kod raznih neuroloskih poremecaja. Metode. Ovom studijom bilo je obuhvaceno 19 konsekutivnih bolesnika sa znacajnom sijalorejom izazvanom razlicitim neuroloskim bolestima. Od tog broja 13 bolesnika je bilo sa Parkinsonovom bolesti, dva sa pantotenat kinaza-udruzenom neurodegeneracijom, dva sa multiplom sistemskom atrofijom, jedan sa Wilson-ovom bolesti i jedan bolesnik sa postoperativnom sijalorejom. Botulinski toksin A (Dysport?, Ipsen Pharma) injektovan je u parotidne zlezde kod bolesnika sa (n = 7) i bez (n = 12) ultrazvucnog navodjenja. Svi bolesnici ocenjivani su pre i posle tretmana u nedeljnim intervalima uz primenu dela UPDRS skale koji se odnosi na hipersalivaciju (Unified Parkinson's Disease Rating Scale - UPDRS, Part II Activity of Daily Living). Rezultati. Ukupno 13 bolesnika (68%) saopstilo je povoljno dejstvo injektovanja BTX-A, dok je sest bolesnika (32%) ostalo bez ikakve reakcije. Ocene stepena sijaloreje pre i posle tretmana bile su 3,1 ? 0,1 (opseg 2-4) i 1,8 ? 0,1 (opseg 0-3), respektivno (t = 5,636; p 〈 0,001). Nije bilo razlike u magnitudi reakcije izmedju grupa sa (t = 4,500; p = 0,004) i bez (t = 3,674; p = 0,005) ultrazvucnog upravljanja mestima injektovanja. Nezeljeni efekti zabelezeni su kod pet bolesnika (26%). Zakljucak. Injektiranje botulinskog toksina A u lako pristupacne parotidne zlezde, bez potrebe za ultrazvucnim navodjenjem, bezbedno je i efikasno u lecenju sijaloreje kod razlicitih neuroloskih bolesti.
    Type of Medium: Online Resource
    ISSN: 0042-8450 , 2406-0720
    URL: Article
    DOI: 10.2298/VSP0901009S
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2009
    detail.hit.zdb_id: 2169819-3
    detail.hit.zdb_id: 123795-0
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Fluoxetine does not impair motor function in patients with Parkinson's disease: Correlation between mood and motor functions with plasma concentrations of fluoxetine/norfluoxetine
    National Library of Serbia ; 2012
    In:  Military Medical and Pharmaceutical Journal of Serbia Vol. 69, No. 12 ( 2012), p. 1067-1075
    Details
    In: Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 69, No. 12 ( 2012), p. 1067-1075
    Abstract: Background/Aim. Selective serotonin reuptake inhibitors are the most commonly chosen antidepressants in patients with Parkinson's disease (PD). The aim of our study was to assess the influence of fluoxetine (Flu) on motor functions in patients with PD. Methods. In this prospective, controlled, open-label study, 18 patients with PD and mild depression [(10 ? Hamilton Rating Scale for Depression (HDRS) ? 23)] without dementia [(25 ? Mini-Mental State Examination (MMSE)] were treated with Flu. Both single and repeated dose effects of Flu were assessed on days 1-80. Plasma concentrations of Flu and norfluoxetine (NORFlu) were correlated with the results of selected motor function performance scores: The Unified Parkinsons Disease Rating Score (UPDRS), Finger Tapping Test (FTT) and Purdue Pegboard Test (PPT). Severity of PD, depression and dementia were evaluated using standard tests [(Hoehn and Yahr stages (HY), activity of daily living (ADL), UPDRS, HDRS, MMSE)]. Results. Steady-state for Flu/NORFlu was reached after 18 days of treatment. Such a plateau correlated with significant improvements in both scores of depression and Parkinson's disability (HDRS, UPDRS and ADL, respectively). In addition, FTT and PPT scores also increased until day 18, with further slight fluctuations around the plateau. Optimal motor performances correlated with Flu concentrations of approximately 60-110 ?g/L. Conclusion. Flu (20 mg/day) significantly reduced depression in PD patients while it did not impair their motor performances. Because substantial placebo effects may arise in studies of PD and depression, large, prospective, randomized, placebo-controlled clinical trials are warranted.
    Type of Medium: Online Resource
    ISSN: 0042-8450 , 2406-0720
    URL: Article
    DOI: 10.2298/VSP111114028K
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2012
    detail.hit.zdb_id: 2169819-3
    detail.hit.zdb_id: 123795-0
    SSG: 15,3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    Spectral parameters for finger tapping quantification
    National Library of Serbia ; 2017
    In:  Facta universitatis - series: Electronics and Energetics Vol. 30, No. 4 ( 2017), p. 585-597
    Details
    In: Facta universitatis - series: Electronics and Energetics, National Library of Serbia, Vol. 30, No. 4 ( 2017), p. 585-597
    Abstract: A miniature inertial sensor placed on fingertip of index finger while performing finger tapping test can be used for an objective quantification of finger tapping motion. Temporal and spatial parameters such as cadence, tapping duration, and tapping angle can be extracted for detailed analysis. However, the mentioned parameters, although intuitive and simple to interpret, do not always provide all the necessary information regarding the subject?s motor performance. Analysis of frequency content of the finger tapping movement can provide crucial information about the patient's condition. In this paper, we present parameters extracted from spectral analysis that we found to be significant for finger tapping assessment. With these parameters, tapping?s intra-variability, movement smoothness and anomalies that may occur within the tapping performance can be detected and described, providing significant information for further diagnostics and monitoring progress of the disease or response to therapy.
    Type of Medium: Online Resource
    ISSN: 0353-3670 , 2217-5997
    URL: Article
    DOI: 10.2298/FUEE1704585B
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2017
    detail.hit.zdb_id: 2629094-7
    detail.hit.zdb_id: 1075142-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    Mitochondrial myopathy, encephalopathy, lactate acidosis with stroke-like episodes syndrome (MELAS): A case report
    National Library of Serbia ; 2012
    In:  Srpski arhiv za celokupno lekarstvo Vol. 140, No. 5-6 ( 2012), p. 355-358
    Details
    In: Srpski arhiv za celokupno lekarstvo, National Library of Serbia, Vol. 140, No. 5-6 ( 2012), p. 355-358
    Abstract: Uvod. Sindrom mitohondrijalne encefalomiopatije i laktatne acidoze s epizodama nalik akutnom mozdanom udaru (engl. mitochondrial encephalomyopathy, lactic acidosis, and stroke- like episodes - MELAS) jeste multisistemski poremecaj funkcije mitohondrija koji nastaje kao posledica mutacija u mitohondrijalnoj DNK. U radu je prikazan bolesnik sa geneticki potvrdjenim sindromom MELAS. Prikaz bolesnika. Kod bolesnika se sindrom MELAS klinicki ispoljio u vidu niskog rasta, sklonosti ka brzom zamaranju, ponavljanih epilepticnih napada, progresivnog kognitivnog propadanja, miopatije, senzorineuralne gluvoce, secerne bolesti i pojava nalik mozdanom udaru. Glavobolje migrenoznog tipa, glavni klinicki znak, nisu dijagnostikovane. Neurovizuelizacione metode su pokazale infarktna ognjista mozdane kore zadnjih regiona mozga. Elektronska mikroskopija biopsije uzorka misica pokazala je subsarkolemalno nagomilavanje velikog broja nepravilnih mitohondrija s parakristalnim inkluzijama u skeletnim misicnim celijama. Dijagnoza je potvrdjena otkrivanjem specificne tackaste mutacije A?G na poziciji 3243 u mitohondrijalnoj DNK. Zakljucak. U slucaju okcipitalnih mozdanih infarkta kod mladih osoba i multisistemskog ispoljavanja bolesti, u diferencijalnu dijagnozu obavezno treba uvrstiti i sindrom MELAS i obaviti neophodna ispitivanja radi postavljanja prave dijagnoze bolesti.
    Type of Medium: Online Resource
    ISSN: 0370-8179 , 2406-0895
    URL: Article
    DOI: 10.2298/SARH1206355P
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2012
    detail.hit.zdb_id: 2577665-4
    detail.hit.zdb_id: 128567-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    Online Resource
    Online Resource
    Wilson’s disease
    National Library of Serbia ; 2024
    In:  Srpski arhiv za celokupno lekarstvo Vol. 152, No. 5-6 ( 2024), p. 310-317
    Details
    In: Srpski arhiv za celokupno lekarstvo, National Library of Serbia, Vol. 152, No. 5-6 ( 2024), p. 310-317
    Abstract: Wilson?s disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by mutations in the ATP7B gene, which is located on chromosome 13q14.3. The global genetic prevalence of WD at birth is approximately 13.9?15.4 per 100,000 population. Although WD is a rare condition associated with treatment efficacy, mortality rates in patients with WD (5?6.1%) are higher than healthy controls. Prevalent features of WD include hepatic, neurologic, and psychiatric syndromes, even though various signs and symptoms of the disease have been depicted to this point. If diagnosed and treated at an early stage, WD patients would likely improve and be often largely asymptomatic for the rest of their lives. Prompt diagnosis and lifelong treatment substantially affect outcome. We aimed to summarize current knowledge about WD epidemiology, genetics, clinical manifestations, diagnostic workup, and current WD management.
    Type of Medium: Online Resource
    ISSN: 0370-8179 , 2406-0895
    URL: Article
    DOI: 10.2298/SARH240511046S
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2024
    detail.hit.zdb_id: 2577665-4
    detail.hit.zdb_id: 128567-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    Clinical exome sequencing in Serbian patients with movement disorders: Single centre experience
    National Library of Serbia ; 2022
    In:  ABI Genetika Vol. 54, No. 1 ( 2022), p. 395-409
    Details
    In: ABI Genetika, National Library of Serbia, Vol. 54, No. 1 ( 2022), p. 395-409
    Abstract: The aim of the study was to analyze the genetic basis of a various range of neurodegenerative disorders manifesting by movement disorders (MD) using next generation sequencing (NGS) clinical exome panel. The study included a total number of 42 cases, 36 unrelated and 3 sibling pairs patients diagnosed with movement disorders, all negative after targeted genetic testing available at Neurology clinic, UCCS, Belgrade, Serbia. In a selection of respondents, preference was given to family cases with the early presentation, patients with a positive family history, or complex MD phenotype. Sequencing of a Clinical exome (CE) panel for 4813 genes with known associated clinical phenotypes was performed on an Illumina MiSeq NGS platform according to the manufacturer?s instructions. Sequence variants were analyzed by Illumina?s Variant Studio v3 software as well as using previously developed pipeline. Variants analysis and interpretation were based on phenotype gene target approach, literature and databases search, allele frequency, and pathogenicity prediction by in silico software. Causative variants were confirmed by Sanger sequencing. Whenever possible, additional family members were studied for segregation analysis. We identified a likely genetic cause of MD in 5 cases. CE panel analysis revealed 7 different missense and one splice site pathogenic/likely pathogenic variants in 5 genes related to rare neurodegenerative disorders. Detected pathogenic/likely pathogenic variants in the TUBB4A, PANK2, SETX, MFSD8, and ARSA genes have been compatible with the clinical phenotype of the patients. Furthermore, in additional three cases variants in the DCTN1, PDGFRB, and POLG genes have been detected as a possible cause of disease. In the rest of the studied cases, genetic diagnosis remains unclear. These results emphasize the significance of CE panel analysis in elucidating the diagnosis of neurodegenerative diseases manifesting by movement disorders and gave us insight into the complexity of the genetic background of this group of disorders.
    Type of Medium: Online Resource
    ISSN: 0534-0012 , 1820-6069
    URL: Article
    DOI: 10.2298/GENSR2201395B
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2022
    detail.hit.zdb_id: 2585955-9
    detail.hit.zdb_id: 1052768-0
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population
    National Library of Serbia ; 2022
    In:  ABI Genetika Vol. 54, No. 3 ( 2022), p. 1313-1330
    Details
    In: ABI Genetika, National Library of Serbia, Vol. 54, No. 3 ( 2022), p. 1313-1330
    Abstract: These include, among others, two forms of atypical Parkinsonism, multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). This study aimed to assess the potential role of C9orf72 repeat expansions among Serbian patients diagnosed with MSA and PSP. Genomic DNA of 44 MSA patients, 73 PSP patients, and 96 controls was extracted from peripheral blood, and normal C9orf72 alleles were analyzed by standard quantitative fluorescence polymerase chain reaction (QF-PCR) and fragment analysis. Subsequently, for all samples presenting a single allele, repeat-primed PCR was performed with two different sets of primers to avoid a false-negative result. Thirty repeats were used as a pathogenic cut-off and 20-29 repeats for the intermediate alleles. No pathological C9orf72 expansions were detected in the MSA and PSP patients nor the control subjects. In the MSA group, the most common was the allele with 2 repeats, and the largest repeat number was 14. Among PSP patients, the most common allele also had 2 repeats, while the largest detected repeat size within the normal range was 17. Also, we identified one PSP patient that had an intermediate size allele (25 repeats). We did not find correlation between the number of repeats and disease onset, age at the time of examination, or disease duration in MSA or PSP patients. Regarding family history, in PSP the sum of both allele repeats numbers was higher in patients with positive family history than in sporadic cases. The results presented in this study are the first systematic assessment of C9orf72 allele sizes among patients diagnosed with MSA and PSP in the Serbian population. Although the potential role of intermediate C9orf72 repeats in neurodegenerative disorders is still to be elucidated, our results support the current knowledge that C9orf72 repeat expansions are not associated with MSA and PSP.
    Type of Medium: Online Resource
    ISSN: 0534-0012 , 1820-6069
    URL: Article
    DOI: 10.2298/GENSR2203313M
    Language: English
    Publisher: National Library of Serbia
    Publication Date: 2022
    detail.hit.zdb_id: 2585955-9
    detail.hit.zdb_id: 1052768-0
    SSG: 12
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...