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Neurotherapeutics

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01.04.2015 | Review

The Genetics of Spinal Muscular Atrophy: Progress and Challenges

verfasst von: Michelle A. Farrar, Matthew C. Kiernan

Erschienen in: Neurotherapeutics | Ausgabe 2/2015

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Abstract

Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The clinical and genetic phenotypes incorporate a wide spectrum that is differentiated based on age of onset, pattern of muscle involvement, and inheritance pattern. Over the past several years, rapid advances in genetic technology have accelerated the identification of causative genes and provided important advances in understanding the molecular and biological basis of SMA and insights into the selective vulnerability of the motor neuron. Common pathophysiological themes include defects in RNA metabolism and splicing, axonal transport, and motor neuron development and connectivity. Together these have revealed potential novel treatment strategies, and extensive efforts are being undertaken towards expedited therapeutics. While a number of promising therapies for SMA are emerging, defining therapeutic windows and developing sensitive and relevant biomarkers are critical to facilitate potential success in clinical trials. This review incorporates an overview of the clinical manifestations and genetics of SMA, and describes recent advances in the understanding of mechanisms of disease pathogenesis and development of novel treatment strategies.

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Titel: The Genetics of Spinal Muscular Atrophy: Progress and Challenges
verfasst von: Michelle A. Farrar
Matthew C. Kiernan
Publikationsdatum: 01.04.2015
Verlag: Springer US
Erschienen in: Neurotherapeutics / Ausgabe 2/2015
Print ISSN: 1933-7213
Elektronische ISSN: 1878-7479
DOI: https://doi.org/10.1007/s13311-014-0314-x

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Springer Medizin

The Genetics of Spinal Muscular Atrophy: Progress and Challenges

Abstract

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

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Weitere Artikel der Ausgabe 2/2015

Neuroimaging as a New Diagnostic Modality in Amyotrophic Lateral Sclerosis

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

Regulation of Intracellular Copper by Induction of Endogenous Metallothioneins Improves the Disease Course in a Mouse Model of Amyotrophic Lateral Sclerosis

Diffusion Efficiency and Bioavailability of Resveratrol Administered to Rat Brain by Different Routes: Therapeutic Implications

Recent Advances and the Future of Stem Cell Therapies in Amyotrophic Lateral Sclerosis

Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie