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Mol Neurodegener 2021 Mar 4;16(1):13. Epub 2021 Mar 4.

Euan MacDonald Centre for MND Research, University of Edinburgh, Edinburgh, EH16 4SB, UK.

Background: Physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients, including those harbouring the C9ORF72 repeat expansion (C9ORF72) mutation - the most common genetic impairment causal to ALS and FTD. Noting that perturbations in cortical function are evidenced pre-symptomatically, and that the cortex is associated with widespread pathology, cortical dysfunction is thought to be an early driver of neurodegenerative disease progression. However, our understanding of how altered network function manifests at the cellular and molecular level is not clear. Read More

Small GTPases 2021 Mar 5:1-21. Epub 2021 Mar 5.

Department of Urology, State Key Laboratory of Biotherapy, West China Hospital, College of Life Sciences, Sichuan University, Chengdu, China.

The hexanucleotide repeat (GGGGCC) expansion in is accounted for a large proportion of the genetic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The hypotheses of how the massive G4C2 repeats in destroy the neurons and lead to ALS/FTD are raised and improving. As a multirole player, C9orf72 exerts critical roles in many cellular processes, including autophagy, membrane trafficking, immune response, and so on. Read More

Pharmacol Rep 2021 Mar 4. Epub 2021 Mar 4.

Bar-Ilan University, 5290002, Ramat-Gan, Israel.

Background: ALS is an incurable neuromuscular degenerative disorder. A familiar form of the disease (fALS) is related to point mutations. The most common one is an expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene on chromosome 9p21. Read More

Autophagy 2021 Feb 26:1-17. Epub 2021 Feb 26.

Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium.

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two clinically distinct classes of neurodegenerative disorders. Yet, they share a range of genetic, cellular, and molecular features. Hexanucleotide repeat expansions (HREs) in the gene and the accumulation of toxic protein aggregates in the nervous systems of the affected individuals are among such common features. Read More

Parkinsonism Relat Disord 2021 Feb 2;84:82-90. Epub 2021 Feb 2.

Center for Neurodegenerative Diseases (CEMAND), Department of Medicine, Surgery and Dentistry, Neuroscience Section, University of Salerno, Italy. Electronic address:

Objective: To perform the genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome.

Methods: A Next Generation Sequencing - based targeted sequencing of 32 genes associated to various neurodegenerative phenotypes, plus a screening for SNCA Copy Number Variations and C9orf72 repeat expansion, was applied in a cohort of 85 Italian patients presenting with parkinsonism and cognitive and/or behavioral syndrome and a positive familial history for any neurodegenerative disorder (i.e. Read More