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Muscle Nerve 2021 Mar 4. Epub 2021 Mar 4.

Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Bari, Italy.

Introduction: Nusinersen was approved as the first treatment for all types of spinal muscular atrophy (SMA), including adults with SMA type 2 and 3. Robust biomarkers of treatment response in SMA adults are lacking. Our aim was to examine cerebrospinal fluid (CSF) amyloid β 40 (Aβ40) and amyloid β 42 peptides (Aβ42) as biomarker of treatment response. Read More

iScience 2021 Feb 18;24(2):102061. Epub 2021 Jan 18.

The Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Tarry Building, Room 13-715, 303 East Chicago Avenue, Chicago, IL 60611, USA.

Mutations in coiled-coil-helix-coiled-coil-helix domain containing 10 () have been identified in patients suffering from various degenerative diseases including mitochondrial myopathy, spinal muscular atrophy Jokela type, frontotemporal dementia, and/or amyotrophic lateral sclerosis (ALS). The pathogenic mechanism underlying -linked divergent disorders remains largely unknown. Here we show that transgenic mice overexpressing an ALS-linked CHCHD10 p. Read More

Gene Ther 2021 Mar 3. Epub 2021 Mar 3.

Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

In the last two decades, recombinant adeno-associated virus has emerged as the most popular gene therapy vector. Recently AAV gene therapy has been approved by the FDA for the treatment of two rare genetic disorders, namely the early childhood blindness disease Leber congenital amaurosis and spinal muscular atrophy (SMA). As is the case for the treatment of SMA, if the AAV vector must be administered systemically, very high vector doses are often required for therapeutic efficacy. Read More

Brain Sci 2021 Feb 26;11(3). Epub 2021 Feb 26.

Department of Neurology, Hannover Medical School, 30625 Hannover, Germany.

Approval of nusinersen, an intrathecally administered antisense oligonucleotide, for the treatment of 5q-spinal muscular atrophy (SMA) marked the beginning of a new therapeutic era in neurological diseases. Changes in routine cerebrospinal fluid (CSF) parameters under nusinersen have only recently been described in adult SMA patients. We aimed to explore these findings in a real-world setting and to identify clinical and procedure-associated features that might impact CSF parameters. Read More

J Neuromuscul Dis 2021 Feb 24. Epub 2021 Feb 24.

MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK.

While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Read More