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  1. Article ; Online: The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden.

    Carraro, Elena / Greco, Lucia Catherine / Lizio, Andrea / Beretta, Maria / Pozzi, Susanna / Casiraghi, Jacopo / Becchiati, Stefano / Beshiri, Fatmira / Frisoni, Maria Chiara / Iossa, Felicia / Heatwole, Chad / Sansone, Valeria

    Disability and rehabilitation

    2023  , Page(s) 1–8

    Abstract: Purpose: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.: Materials and ... ...

    Abstract Purpose: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.
    Materials and methods: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects.
    Results: The Italian translation of the FSHD-HI and its subscales were highly relevant to patients, had a high internal consistency (Cronbach's Alpha = 0.90), optimal test-retest reliability (ICC= 0.95), and was significantly associated with motor function, respiratory function, and QoL assessments.
    Conclusions: Overall, the Italian FSHD-HI is a valid and well-suited measurement of the multi-dimensional aspects of disease burden in FSHD patients.
    Language English
    Publishing date 2023-05-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 1104775-6
    ISSN 1464-5165 ; 0963-8288
    ISSN (online) 1464-5165
    ISSN 0963-8288
    DOI 10.1080/09638288.2023.2212181
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Wheelchair hockey improves quality of life in people with neuromuscular disease.

    Carraro, Elena / Casiraghi, Jacopo L / Bobba, Beatrice / Lizio, Andrea / Cardella, Carolina / Albamonte, Emilio / Lunetta, Christian / Pozzi, Susanna / Sansone, Valeria A

    PM & R : the journal of injury, function, and rehabilitation

    2021  

    Abstract: Background: Participation in sports is known to have positive effects on people's health and psychosocial well-being. Recently, physical activity implications for people with disabilities have been explored, showing promising results on quality of life ... ...

    Abstract Background: Participation in sports is known to have positive effects on people's health and psychosocial well-being. Recently, physical activity implications for people with disabilities have been explored, showing promising results on quality of life and self-concept. However, few studies have specifically investigated the effects of participation in adaptive sports on quality of life in patients with neuromuscular disease.
    Objective: To evaluate differences in psychosocial well-being between people affected by a neuromuscular disease who play wheelchair hockey and those who do not. Individuals playing an adaptive sport would report better quality of life, higher physical self-efficacy scores, and more effective coping strategies, as assessed by self-reported measures.
    Design: Cross-sectional study.
    Setting: Data were collected during clinical follow-ups at the NEMO Clinical Center in Milan (Italy).
    Participants: A total of 25 patients affected by neuromuscular diseases, ages 18 to 40 years, participated in the study.
    Interventions: Not applicable.
    Main outcome measures: The primary outcome was to compare quality of life between groups. Secondary outcomes were the comparisons of physical self-efficacy and coping strategies through self-reported measures.
    Results: Wheelchair hockey players scored significantly higher on the Quality of Life Index (specifically on the health/functioning and psychological/spiritual sub-scales) and reported better physical self-efficacy and perceived physical ability compared to the control group (i.e., patients who do not participate in any adaptive sport), controlling for age and pathology. On the contrary, no difference was found in coping strategies between the two groups.
    Conclusions: This study identified a significant association between participation in wheelchair hockey and improved physical and psychological well-being of people affected by neuromuscular diseases compared to those who are not involved in adaptive sports.
    Language English
    Publishing date 2021-11-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2608988-9
    ISSN 1934-1563 ; 1934-1482
    ISSN (online) 1934-1563
    ISSN 1934-1482
    DOI 10.1002/pmrj.12736
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  3. Article ; Online: Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.

    Trucco, Federica / Salmin, Francesca / Lizio, Andrea / Coratti, Giorgia / Albamonte, Emilio / Frisoni, Maria Chiara / Mauro, Luca / Carraro, Elena / Palazzo, Giovanni / Lops, Jessica / Cattaneo, Camilla / Pozzi, Susanna / Casiraghi, Jacopo / Di Bari, Alessandra / Berti, Beatrice / Stanca, Giulia / Ricci, Martina / Pane, Marika / Heatwole, Chad /
    Dilek, Nuran / Mercuri, Eugenio / Sansone, Valeria Ada

    Dysphagia

    2023  Volume 38, Issue 6, Page(s) 1568–1580

    Abstract: Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing ... ...

    Abstract Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa Oral Performance Instrument), chewing and swallowing (Test of Masticating and Swallowing Solids), active mouth opening (aMMO) were compared to age-appropriate normative data. The perceived burden of oro-bulbar involvement (SMA-Health Index) was recorded. 78 patients were included, 45 children (median age 7.4 years),22 adults (median age 26.8 years) on nusinersen and 11 untreated (median age 32.7 years). Forty-three percent children had reduced mouth opening, 50% had prolonged total time to eat. These issues were more prominent in sitters than in walkers (p = 0.019, p = 0.014). Sixty-six percent needed increased swallows for bolus clearance. Nusinersen treated adults had median aMMO, tongue strength and total time at TOMASS values within normal range (z score: -1.40, -1.22, -1.32, respectively) whereas untreated adults had reduced aMMO (z score: -2.68) and tongue strength (z score: -2.20). Only a minority of children (2/17) and treated adults (5/21) reported burden in swallowing or mastication compared to all untreated adults (5/5). After 16 months, mastication and swallowing were stable in treated children and adults, whether sitters or walkers. The reported multimodal approach to assess oro-bulbar functions demonstrate that swallowing and mastication are impaired in SMA despite patients' perception. These results suggest a trend towards stabilization of oro-bulbar function in patients on long-term treatment with nusinersen.
    MeSH term(s) Humans ; Adult ; Child ; Prospective Studies ; Cross-Sectional Studies ; Prevalence ; Spinal Muscular Atrophies of Childhood ; Deglutition
    Language English
    Publishing date 2023-06-08
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632764-3
    ISSN 1432-0460 ; 0179-051X
    ISSN (online) 1432-0460
    ISSN 0179-051X
    DOI 10.1007/s00455-023-10584-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire.

    De Mattia, Elisa / Lizio, Andrea / Falcier, Elisa / Sannicolò, Giulia / Gualandris, Marco / Rossi, Gabriella / Zanolini, Alice / Pozzi, Susanna / Messina, Sonia / Sframeli, Maria / Lunetta, Christian / Rao, Fabrizio / Sansone, Valeria A

    Neuromuscular disorders : NMD

    2020  Volume 30, Issue 4, Page(s) 301–309

    Abstract: Symptoms of respiratory involvement are frequently present but overlooked by patients with Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test whether a DM-specifically designed checklist to detect symptoms of ... ...

    Abstract Symptoms of respiratory involvement are frequently present but overlooked by patients with Myotonic Dystrophy type 1 (DM1). A respiratory symptom checklist was designed to test whether a DM-specifically designed checklist to detect symptoms of respiratory involvement (The Respicheck Questionnaire) could help patients be more aware of their respiratory problems, if any, and help clinicians in identifying potential candidates for intervention. The Respicheck questionnaire was administered to 58 consecutive adult-onset patients with genetically determined DM1 who did not complain of respiratory involvement per history at enrollment. Based on respiratory function test results patients were divided into 3 groups: A, (n = 17) having no signs of respiratory involvement; B (n = 13), patients having borderline results on respiratory assessments and having no need for respiratory intervention; C, (n = 28) patients having respiratory impairment requiring intervention. Respiratory test results and Respicheck scores were analyzed. Respicheck total score and subscales correlated positively with global respiratory impairment. Respicheck appears to be able to discriminate between patients having a higher level of respiratory dysfunction from those having a lower risk of respiratory involvement. This might allow to better target efforts and resources in respiratory management in DM1.
    MeSH term(s) Adult ; Female ; Humans ; Male ; Middle Aged ; Myotonic Dystrophy/classification ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/diagnosis ; Noninvasive Ventilation ; Respiration Disorders/classification ; Respiration Disorders/diagnosis ; Respiration Disorders/etiology ; Respiration Disorders/therapy ; Respiratory Function Tests ; Respiratory Insufficiency ; Sensitivity and Specificity ; Severity of Illness Index ; Spirometry ; Surveys and Questionnaires/standards
    Language English
    Publishing date 2020-02-29
    Publishing country England
    Document type Journal Article
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2020.02.014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

    Sansone, Valeria A / Pirola, Alice / Lizio, Andrea / Greco, Lucia Catherine / Coratti, Giorgia / Casiraghi, Jacopo / Pane, Marika / Pera, Maria Carmela / Italiano, Cristina / Messina, Sonia / Pozzi, Susanna / Sframeli, Maria / D'Amico, Adele / Bertini, Enrico / Bruno, Claudio / Mauro, Luca / Salmin, Francesca / Stancanelli, Claudia / Pedemonte, Marina /
    Albamonte, Emilio / Zizzi, Christine / Heatwole, Chad / Mercuri, Eugenio

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 5, Page(s) 409–418

    Abstract: Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal ... ...

    Abstract Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts. Internal consistency in an additional 98 patients (24 children, 74 adults) was also excellent (Cronbach's alpha = 0.93 and 0.91 respectively). In children the highest level of disease burden was generated from lower limb dysfunction and fatigue as well as their perception of decreased performance in social situations. Most patients in the adult cohort were sitters and complained of problems with upper limb functions as well as of fatigue. The SMAHI-IT was also able to differentiate between SMA types according to diseases severity. The results of our study demonstrate that the SMAHI can be considered a marker of disease-specific burden in patients with SMA with a high test-retest reliability and internal validity in Italian patients aged 12 and older.
    MeSH term(s) Adolescent ; Adult ; Child ; Cohort Studies ; Cost of Illness ; Female ; Humans ; Italy ; Male ; Middle Aged ; Muscular Atrophy, Spinal/psychology ; Patient Reported Outcome Measures ; Quality of Life ; Reproducibility of Results ; Severity of Illness Index ; Surveys and Questionnaires ; Translations
    Language English
    Publishing date 2021-02-09
    Publishing country England
    Document type Journal Article ; Validation Study
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.02.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

    Johnson, Janel O / Chia, Ruth / Miller, Danny E / Li, Rachel / Kumaran, Ravindran / Abramzon, Yevgeniya / Alahmady, Nada / Renton, Alan E / Topp, Simon D / Gibbs, J Raphael / Cookson, Mark R / Sabir, Marya S / Dalgard, Clifton L / Troakes, Claire / Jones, Ashley R / Shatunov, Aleksey / Iacoangeli, Alfredo / Al Khleifat, Ahmad / Ticozzi, Nicola /
    Silani, Vincenzo / Gellera, Cinzia / Blair, Ian P / Dobson-Stone, Carol / Kwok, John B / Bonkowski, Emily S / Palvadeau, Robin / Tienari, Pentti J / Morrison, Karen E / Shaw, Pamela J / Al-Chalabi, Ammar / Brown, Robert H / Calvo, Andrea / Mora, Gabriele / Al-Saif, Hind / Gotkine, Marc / Leigh, Fawn / Chang, Irene J / Perlman, Seth J / Glass, Ian / Scott, Anna I / Shaw, Christopher E / Basak, A Nazli / Landers, John E / Chiò, Adriano / Crawford, Thomas O / Smith, Bradley N / Traynor, Bryan J / Fallini, Claudia / Gkazi, Athina Soragia / Scotter, Emma L / Kenna, Kevin P / Keagle, Pamela / Tiloca, Cinzia / Vance, Caroline / Colombrita, Claudia / King, Andrew / Pensato, Viviana / Castellotti, Barbara / Baas, Frank / Ten Asbroek, Anneloor L M A / McKenna-Yasek, Diane / McLaughlin, Russell L / Polak, Meraida / Asress, Seneshaw / Esteban-Pérez, Jesús / Stevic, Zorica / D'Alfonso, Sandra / Mazzini, Letizia / Comi, Giacomo P / Del Bo, Roberto / Ceroni, Mauro / Gagliardi, Stella / Querin, Giorgia / Bertolin, Cinzia / van Rheenen, Wouter / Rademakers, Rosa / van Blitterswijk, Marka / Lauria, Giuseppe / Duga, Stefano / Corti, Stefania / Cereda, Cristina / Corrado, Lucia / Sorarù, Gianni / Williams, Kelly L / Nicholson, Garth A / Leblond-Manry, Claire / Rouleau, Guy A / Hardiman, Orla / Veldink, Jan H / van den Berg, Leonard H / Pall, Hardev / Turner, Martin R / Talbot, Kevin / Taroni, Franco / García-Redondo, Alberto / Wu, Zheyang / Glass, Jonathan D / Ratti, Antonia / Adeleye, Adelani / Soltis, Anthony R / Alba, Camille / Viollet, Coralie / Bacikova, Dagmar / Hupalo, Daniel N / Sukumar, Gauthaman / Pollard, Harvey B / Wilkerson, Matthew D / Martinez, Elisa McGrath / Ahmed, Sarah / Arepalli, Sampath / Baloh, Robert H / Bowser, Robert / Brady, Christopher B / Brice, Alexis / Broach, James / Campbell, Roy H / Camu, William / Cooper-Knock, John / Ding, Jinhui / Drepper, Carsten / Drory, Vivian E / Dunckley, Travis L / Eicher, John D / England, Bryce K / Faghri, Faraz / Feldman, Eva / Floeter, Mary Kay / Fratta, Pietro / Geiger, Joshua T / Gerhard, Glenn / Gibson, Summer B / Hardy, John / Harms, Matthew B / Heiman-Patterson, Terry D / Hernandez, Dena G / Jansson, Lilja / Kirby, Janine / Kowall, Neil W / Laaksovirta, Hannu / Landeck, Natalie / Landi, Francesco / Le Ber, Isabelle / Lumbroso, Serge / MacGowan, Daniel J L / Maragakis, Nicholas J / Mouzat, Kevin / Murphy, Natalie A / Myllykangas, Liisa / Nalls, Mike A / Orrell, Richard W / Ostrow, Lyle W / Pamphlett, Roger / Pickering-Brown, Stuart / Pioro, Erik P / Pletnikova, Olga / Pliner, Hannah A / Pulst, Stefan M / Ravits, John M / Rivera, Alberto / Robberecht, Wim / Rogaeva, Ekaterina / Rollinson, Sara / Rothstein, Jeffrey D / Scholz, Sonja W / Sendtner, Michael / Sidle, Katie C / Simmons, Zachary / Singleton, Andrew B / Smith, Nathan / Stone, David J / Troncoso, Juan C / Valori, Miko / Van Damme, Philip / Van Deerlin, Vivianna M / Van Den Bosch, Ludo / Zinman, Lorne / Angelocola, Stefania M / Ausiello, Francesco P / Barberis, Marco / Bartolomei, Ilaria / Battistini, Stefania / Bersano, Enrica / Bisogni, Giulia / Borghero, Giuseppe / Brunetti, Maura / Cabona, Corrado / Canale, Fabrizio / Canosa, Antonio / Cantisani, Teresa A / Capasso, Margherita / Caponnetto, Claudia / Cardinali, Patrizio / Carrera, Paola / Casale, Federico / Colletti, Tiziana / Conforti, Francesca L / Conte, Amelia / Conti, Elisa / Corbo, Massimo / Cuccu, Stefania / Dalla Bella, Eleonora / D'Errico, Eustachio / DeMarco, Giovanni / Dubbioso, Raffaele / Ferrarese, Carlo / Ferraro, Pilar M / Filippi, Massimo / Fini, Nicola / Floris, Gianluca / Fuda, Giuseppe / Gallone, Salvatore / Gianferrari, Giulia / Giannini, Fabio / Grassano, Maurizio / Greco, Lucia / Iazzolino, Barbara / Introna, Alessandro / La Bella, Vincenzo / Lattante, Serena / Liguori, Rocco / Logroscino, Giancarlo / Logullo, Francesco O / Lunetta, Christian / Mandich, Paola / Mandrioli, Jessica / Manera, Umberto / Manganelli, Fiore / Marangi, Giuseppe / Marinou, Kalliopi / Marrosu, Maria Giovanna / Martinelli, Ilaria / Messina, Sonia / Moglia, Cristina / Mosca, Lorena / Murru, Maria R / Origone, Paola / Passaniti, Carla / Petrelli, Cristina / Petrucci, Antonio / Pozzi, Susanna / Pugliatti, Maura / Quattrini, Angelo / Ricci, Claudia / Riolo, Giulia / Riva, Nilo / Russo, Massimo / Sabatelli, Mario / Salamone, Paolina / Salivetto, Marco / Salvi, Fabrizio / Santarelli, Marialuisa / Sbaiz, Luca / Sideri, Riccardo / Simone, Isabella / Simonini, Cecilia / Spataro, Rossella / Tanel, Raffaella / Tedeschi, Gioacchino / Ticca, Anna / Torriello, Antonella / Tranquilli, Stefania / Tremolizzo, Lucio / Trojsi, Francesca / Vasta, Rosario / Vacchiano, Veria / Vita, Giuseppe / Volanti, Paolo / Zollino, Marcella / Zucchi, Elisabetta

    JAMA neurology

    2021  Volume 78, Issue 10, Page(s) 1236–1248

    Abstract: Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.: Objective: To identify the genetic variants associated with juvenile ALS.: Design, ...

    Abstract Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.
    Objective: To identify the genetic variants associated with juvenile ALS.
    Design, setting, and participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.
    Main outcomes and measures: De novo variants present only in the index case and not in unaffected family members.
    Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.
    Conclusions and relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
    MeSH term(s) Adolescent ; Adult ; Amyotrophic Lateral Sclerosis/genetics ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Mutation ; Serine C-Palmitoyltransferase/genetics ; Exome Sequencing ; Young Adult
    Chemical Substances SPTLC1 protein, human (EC 2.3.1.50) ; Serine C-Palmitoyltransferase (EC 2.3.1.50)
    Language English
    Publishing date 2021-09-02
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2021.2598
    Database MEDical Literature Analysis and Retrieval System OnLINE

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