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  • Wiley  (4)
  • Freigang, Maren  (4)
  • Ludolph, Albert C.  (4)
  • 1
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    Online Resource
    Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy
    Wiley ; 2022
    In:  Annals of Clinical and Translational Neurology Vol. 9, No. 9 ( 2022-09), p. 1437-1448
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    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 9, No. 9 ( 2022-09), p. 1437-1448
    Abstract: Activated astroglia is involved in the pathophysiology of neurodegenerative diseases and has also been described in animal models of spinal muscular atrophy (SMA). Given the urgent need of biomarkers for treatment monitoring of new RNA‐modifying and gene replacement therapies in SMA, we examined glial fibrillary acidic protein concentrations in cerebrospinal fluid (cGFAP) as a marker of astrogliosis in SMA. Methods 58 adult patients and 21 children with genetically confirmed 5q‐associated SMA from four German motor neuron disease specialist care centers and 30 age‐ and sex‐matched controls were prospectively included in this study. cGFAP was measured and correlated to motor performance and disease severity. Additionally, we compared cGFAP with neurofilament light chain concentrations in cerebrospinal fluid (cNfL). Results cGFAP concentrations did not differ from controls but showed higher levels in more severely affected patients after adjustment for patients' age. Normalized cNfL values were associated with disease severity. Within 14 months of nusinersen treatment, cGFAP concentrations did not change, while cNfL decreased significantly. Interpretation cGFAP is not an outstanding biomarker in SMA, but might support the hypothesis that glial activation is involved in SMA pathology. Unlike previously suggested, cNfL may be a promising biomarker also in adult patients with SMA, which should be subject to further investigations.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v9.9
    DOI: 10.1002/acn3.51645
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2740696-9
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  • 2
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    Online Resource
    Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
    Wiley ; 2021
    In:  Annals of Clinical and Translational Neurology Vol. 8, No. 5 ( 2021-05), p. 1049-1063
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    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 8, No. 5 ( 2021-05), p. 1049-1063
    Abstract: To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated spinal muscular atrophy (SMA). Methods Within this retrospective, multicenter observational study in 206 adult patients with SMA, we determined clinical subtypes (SMA types, ambulatory ability) and repeatedly measured CK and Crn and examined disease severity scores (Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, and revised Amyotrophic Lateral Sclerosis Functional Rating Scale). Patients were followed under nusinersen treatment for 18 months. Results CK and Crn differed between clinical subtypes and correlated strongly with disease severity scores (e.g., for Hammersmith Functional Motor Scale Expanded: (CK) ρ  = 0.786/ (Crn) ρ  = 0.558). During the 18 months of nusinersen treatment, CK decreased (∆CK = −17.56%, p   〈  0.0001), whereas Crn slightly increased (∆Crn = +4.75%, p   〈  0.05). Interpretation Serum creatine kinase activity and serum creatinine concentration reflect disease severity of spinal muscular atrophy and are promising biomarkers to assess patients with spinal muscular atrophy during disease course and to predict treatment response. The decrease of creatine kinase activity, combined with the tendency of creatinine concentration to increase during nusinersen treatment, suggests reduced muscle mass wasting with improved muscle energy metabolism.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v8.5
    DOI: 10.1002/acn3.51340
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2740696-9
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  • 3
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    Online Resource
    Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
    Wiley ; 2022
    In:  Annals of Clinical and Translational Neurology Vol. 9, No. 3 ( 2022-03), p. 351-362
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    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 9, No. 3 ( 2022-03), p. 351-362
    Abstract: Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated. The Multidimensional Fatigue Inventory is a widely used instrument that captures five distinct dimensions. The aim of this study was to investigate the validity and reliability of the German Multidimensional Fatigue Inventory in spinal muscular atrophy and to evaluate the presence of clinically relevant fatigue. Methods One hundred and forty adult spinal muscular atrophy patients completed the Multidimensional Fatigue Inventory in a nationwide, multicenter, cross‐sectional study. Structural validity was explored using principal component analysis. Cronbach’s α was calculated to evaluate internal consistency. Convergent validity was assessed by correlation with a Visual Analog Scale for fatigue and the EuroQol‐Five Dimension‐Five Level Scale as a measure of quality of life. Results The original five‐component model of the questionnaire constituted an acceptable fit. Internal consistency and convergent validity of general , physical , mental fatigue , and reduced activity were good. We observed a floor effect for mental fatigue . While physical fatigue exceeded the cutoff for clinically relevant fatigue, all dimensions but reduced motivation correlated negatively with quality of life. Age, depression, and ≥4 copies of the survival motor neuron 2 gene were associated with higher general/physical fatigue ; unemployed participants reported higher scores for reduced activity/motivation . Interpretation The Multidimensional Fatigue Inventory is a valid and reliable instrument to assess different dimensions of fatigue in spinal muscular atrophy. Fatigue is a relevant problem in spinal muscular atrophy and its assessment should be incorporated into standard care.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v9.3
    DOI: 10.1002/acn3.51520
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2740696-9
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  • 4
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    Online Resource
    Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen
    Wiley ; 2021
    In:  European Journal of Neurology Vol. 28, No. 8 ( 2021-08), p. 2582-2595
    Details
    In: European Journal of Neurology, Wiley, Vol. 28, No. 8 ( 2021-08), p. 2582-2595
    Abstract: This was an investigation of treatment expectations and of the perception of therapy in adult patients with 5q‐associated spinal muscular atrophy (5q‐SMA) receiving nusinersen. Methods A prospective, non‐interventional observational study of nusinersen treatment in adult 5q‐SMA patients was conducted at nine SMA centers in Germany. The functional status, treatment expectations and perceived outcomes were assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale—extended (ALS‐FRS‐ex), the Measure Yourself Medical Outcome Profile (MYMOP2), the Treatment Satisfaction Questionnaire for Medication (TSQM‐9) and the Net Promoter Score (NPS). Results In all, 151 patients were included with a median age of 36 years (15–69 years). SMA type 3 ( n  = 90, 59.6%) prevailed, followed by type 2 (33.8%) and type 1 (6.6%). In SMA types 1–3, median ALS‐FRS‐ex scores were 25, 33 and 46 (of 60 scale points), respectively. MYMOP2 identified distinct treatment expectations: head verticalization ( n  = 13), bulbar function ( n  = 16), arm function ( n  = 65), respiration ( n  = 15), trunk function ( n  = 34), leg function ( n  = 76) and generalized symptoms ( n  = 77). Median symptom severity decreased during nusinersen treatment (median observational period 6.1 months, 0.5–16 months) from 3.7 to 3.3 MYMOP2 score points ( p  〈  0.001). The convenience of drug administration was critical (49.7 of 100 TSQM‐9 points, SD 22); however, the overall treatment satisfaction was high (74.3, SD 18) and the recommendation rating very positive (NPS +66). Conclusions Nusinersen was administered across a broad range of ages, disease durations and motor function deficits. Treatment expectations were highly differentiated and related to SMA type and functional status. Patient‐reported outcomes demonstrated a positive perception of nusinersen therapy in adult patients with 5q‐SMA.
    Type of Medium: Online Resource
    ISSN: 1351-5101 , 1468-1331
    URL: Issue
    URL: Article
    DOI: 10.1111/ene.v28.8
    DOI: 10.1111/ene.14902
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2020241-6
    detail.hit.zdb_id: 1280785-0
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