PURPOSE: To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy ((1)H-MRS). METHODS: Eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with 11 age-matched healthy control subjects. RESULTS: MR imaging of all the patients and healthy subjects exhibited no structural abnormalities on detailed visual assessment. However, compared with healthy subjects, patients with BAFME displayed elevated choline/creatine ratio in the cerebellar cortex (p = 0.01), whereas there was no significant difference for the other ratios. No (1)H-MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between (1)H-MRS values and disease duration (p = -0.35) as well as myoclonus severity (p = -0.48). CONCLUSIONS: Our findings suggest that the cerebellum is a prominent site of dysfunction in BAFME. The abnormal choline concentrations could reflect changes in the chemical and functional nature of cell membranes. (1)H-MRS was able to detect brain changes also in patients with recent disease onset and may be a useful tool supporting the diagnosis based on familial and electrophysiologic data. The relationship between cortical tremor and the cerebellum is also discussed.
PURPOSE: To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy ((1)H-MRS). METHODS: Eleven BAFMEpatients from three families showing linkage to 2p11.1-q12.2 were compared with 11 age-matched healthy control subjects. RESULTS: MR imaging of all the patients and healthy subjects exhibited no structural abnormalities on detailed visual assessment. However, compared with healthy subjects, patients with BAFME displayed elevated choline/creatine ratio in the cerebellar cortex (p = 0.01), whereas there was no significant difference for the other ratios. No (1)H-MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between (1)H-MRS values and disease duration (p = -0.35) as well as myoclonus severity (p = -0.48). CONCLUSIONS: Our findings suggest that the cerebellum is a prominent site of dysfunction in BAFME. The abnormal choline concentrations could reflect changes in the chemical and functional nature of cell membranes. (1)H-MRS was able to detect brain changes also in patients with recent disease onset and may be a useful tool supporting the diagnosis based on familial and electrophysiologic data. The relationship between cortical tremor and the cerebellum is also discussed.
Authors: Arthur W G Buijink; Matthan W A Caan; Marina A J Tijssen; Johannes M Hoogduin; Natasha M Maurits; Anne-Fleur van Rootselaar Journal: Cerebellum Date: 2013-04 Impact factor: 3.847
Authors: Sarvi Sharifi; Eleonora Aronica; Johannes H T M Koelman; Marina A J Tijssen; Anne-Fleur Van Rootselaar Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2012-08-28
Authors: A W G Buijink; M Broersma; A M M van der Stouwe; S Sharifi; M A J Tijssen; J D Speelman; N M Maurits; A F van Rootselaar Journal: Cerebellum Date: 2016-12 Impact factor: 3.847
Authors: Tom van den Ende; Sarvi Sharifi; Sandra M A van der Salm; Anne-Fleur van Rootselaar Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2018-01-23
Authors: Mark A Corbett; Thessa Kroes; Liana Veneziano; Mark F Bennett; Rahel Florian; Amy L Schneider; Antonietta Coppola; Laura Licchetta; Silvana Franceschetti; Antonio Suppa; Aaron Wenger; Davide Mei; Manuela Pendziwiat; Sabine Kaya; Massimo Delledonne; Rachel Straussberg; Luciano Xumerle; Brigid Regan; Douglas Crompton; Anne-Fleur van Rootselaar; Anthony Correll; Rachael Catford; Francesca Bisulli; Shreyasee Chakraborty; Sara Baldassari; Paolo Tinuper; Kirston Barton; Shaun Carswell; Martin Smith; Alfredo Berardelli; Renee Carroll; Alison Gardner; Kathryn L Friend; Ilan Blatt; Michele Iacomino; Carlo Di Bonaventura; Salvatore Striano; Julien Buratti; Boris Keren; Caroline Nava; Sylvie Forlani; Gabrielle Rudolf; Edouard Hirsch; Eric Leguern; Pierre Labauge; Simona Balestrini; Josemir W Sander; Zaid Afawi; Ingo Helbig; Hiroyuki Ishiura; Shoji Tsuji; Sanjay M Sisodiya; Giorgio Casari; Lynette G Sadleir; Riaan van Coller; Marina A J Tijssen; Karl Martin Klein; Arn M J M van den Maagdenberg; Federico Zara; Renzo Guerrini; Samuel F Berkovic; Tommaso Pippucci; Laura Canafoglia; Melanie Bahlo; Pasquale Striano; Ingrid E Scheffer; Francesco Brancati; Christel Depienne; Jozef Gecz Journal: Nat Commun Date: 2019-10-29 Impact factor: 14.919