We are thankful for van Rootselaar et al’s and Striano et al’s interest in our work, and for sharing their considerations on the subject (Striano et al., 2020; van Rootselaar et al., 2020). The rare and poorly understood disorder that is familial cortical myoclonic tremor and epilepsy (FCMTE) captivates the curiosity of movement disorder and epilepsy specialists, because of its complex phenomenology and its intriguing genetic and pathophysiological underpinnings. We agree that the mechanisms whereby expansions in non-coding regions contribute to disease, regardless of the gene involved, could potentially be ‘textbook material’ as van Rootselaar et al. propose. Indeed, recent genetic discoveries (i.e. intronic pentanucleotide repeat expansions in different genes) have paved the way for the unde
Reply: Pentameric repeat expansions: Cortical myoclonus or cortical tremor? And Cortical tremor: A tantalizing conundrum between cortex and cerebellum / Latorre, A.; Rocchi, L.; Magrinelli, F.; Mulroy, E.; Berardelli, A.; Rothwell, J. C.; Bhatia, K. P.. - In: BRAIN. - ISSN 0006-8950. - 143:10(2020), pp. e88-e88. [10.1093/brain/awaa261]
Reply: Pentameric repeat expansions: Cortical myoclonus or cortical tremor? And Cortical tremor: A tantalizing conundrum between cortex and cerebellum
Berardelli A.;
2020
Abstract
We are thankful for van Rootselaar et al’s and Striano et al’s interest in our work, and for sharing their considerations on the subject (Striano et al., 2020; van Rootselaar et al., 2020). The rare and poorly understood disorder that is familial cortical myoclonic tremor and epilepsy (FCMTE) captivates the curiosity of movement disorder and epilepsy specialists, because of its complex phenomenology and its intriguing genetic and pathophysiological underpinnings. We agree that the mechanisms whereby expansions in non-coding regions contribute to disease, regardless of the gene involved, could potentially be ‘textbook material’ as van Rootselaar et al. propose. Indeed, recent genetic discoveries (i.e. intronic pentanucleotide repeat expansions in different genes) have paved the way for the undeFile | Dimensione | Formato | |
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Latorre_Reply: Pentameric repeat expansion_2020.pdf
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