Leuven Research Institute for Neurodegenerative Disorders LIND

Leuven, Belgium

Leuven Research Institute for Neurodegenerative Disorders LIND

Leuven, Belgium
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Staats K.A.,Leuven research Institute for Neurodegenerative Disorders LIND | Staats K.A.,Vesalius Research Center | Van Rillaer M.,Leuven research Institute for Neurodegenerative Disorders LIND | Scheveneels W.,Leuven research Institute for Neurodegenerative Disorders LIND | And 8 more authors.
Neuroscience | Year: 2012

Amyotrophic Lateral Sclerosis (ALS) is a devastating progressive neurodegenerative disease. One of the proposed disease mechanisms is excitotoxicity, in which excessive cytosolic calcium causes neuronal death. Although most calcium may originate from the extracellular space through activation of calcium-permeable AMPA receptors, we investigated in this study the contribution of endoplasmic reticulum calcium release by blocking the ryanodine receptor (RyR) using dantrolene. In vitro, dantrolene provides a significant protection to motor neurons exposed to a brief excitotoxic insult. However, daily administration of dantrolene to mice overexpressing superoxide dismutase 1 glycine to alanine at position 93 (SOD1G93A) does affect neither survival nor the number of motor neurons and ubiquitin aggregates indicating that calcium release through RyRs does not contribute to the selective motor neuron death in this animal model for ALS. © 2012 IBRO.


Debray S.,Catholic University of Leuven | Race V.,Catholic University of Leuven | Crabbe V.,Vesalius Research Center | Herdewyn S.,Catholic University of Leuven | And 15 more authors.
Neurobiology of Aging | Year: 2013

We determined the frequency of C9orf72 repeat expansions in a large cohort of Belgian patients with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS). In total, 119 patients with fALS from 62 kindreds, 471 patients with sALS, and 384 control subjects were included. A C9orf72 repeat expansion was found in 32 of 62 fALS pedigrees (51.6%), in 45 of 471 patients with sALS (9.6%), but in none of the control subjects. Compared with fALS of unknown etiology or fALS caused by mutations in other ALS-causing genes, C9orf72 repeat expansion carriers had a later age at onset (57.3 vs. 51.4 years; p= 0.0061), a higher proportion of bulbar onset (31.9% vs. 12.5%, p < 0.0001), and a reduced survival (29.4 vs. 67.7 months, p= 0.0003). In the sALS cohort, there were no significant differences in these disease characteristics between the C9orf72 repeat expansion carriers and the noncarriers. C9orf72 repeat expansions are a frequent cause of ALS in Belgium, and also in sALS patients. These results might justify genetic testing of C9orf72 in all ALS patients. © 2013 Elsevier Inc.

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