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 unde
2020
01 Pubblicazione su rivista::01f Lettera, Nota
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]
File allegati a questo prodotto
File Dimensione Formato  
Latorre_Reply: Pentameric repeat expansion_2020.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 246.33 kB
Formato Adobe PDF
246.33 kB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1473593
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 1
social impact