Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Epilepsia

Volumn 50, Issue 5, 2009, Pages 1284-1288

  Suppa, Antonio ^a,b   Berardelli, Alfredo ^a,b   Brancati, Francesco ^c,d   Marianetti, Massimo ^a   Barrano, Giuseppe ^c   Mina, Concetta ^a   Pizzuti, Antonio ^b,c   Sideri, Giulio ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c Mendel Institute   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

Author keywords

Cognitive impairment; Epilepsy; Myoclonus; Transcranial magnetic stimulation; Tremor

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 2; CHROMOSOME 8Q; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DEPTH PERCEPTION; EPILEPSY; FAMILIAL CORTICAL MYOCLONIC TREMOR WITH EPILEPSY; FEMALE; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; ITALY; LINKAGE ANALYSIS; MALE; MOTOR CORTEX; MYOCLONUS; NEUROPHYSIOLOGY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SENSORIMOTOR INTEGRATION; TEMPORAL LOBE; TREMOR;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPILEPSIES, MYOCLONIC; EVOKED POTENTIALS, MOTOR; FEMALE; HUMANS; ITALY; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; TRANSCRANIAL MAGNETIC STIMULATION; TREMOR;

EID: 65549158033     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2008.01976.x     Document Type: Article

References (11)

1. Chen R, Cros D, Curra A, Di Lazzaro V, Lefaucheur JP, Magistris MR, Mills K, Rösler KM, Triggs WJ, Ugawa Y, Ziemann U 2008) The clinical diagnostic utility of transcranial magnetic stimulation: report of an IFCN committee. Clin Neurophysiol 119 : 504 532.
2. Cottingham RW Jr., Idury RM, Schaffer AA 1993) Faster sequential genetic linkage computations. Am J Hum Genet 53 : 252 263. (Pubitemid 23313755)
3. De Falco FA, Striano P, De Falco A, Striano S, Santangelo R, Perretti A, Balbi P, Lecconi M, Zara F 2003) Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology 60 : 1381 1385. (Pubitemid 36469317)
4. Guerrini R, Bonanni P, Patrignani A, Brown P, Parmeggiani L, Grosse P, Brovedani P, Moro F, Aridon P, Carrozzo R, Casari G 2001) Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain 124 : 2459 2475. (Pubitemid 33134935)
5. Madia F, Striano P, Di Bonaventura C, de Falco A, de Falco FA, Manfredi M, Casari G, Striano S, Minetti C, Zara F 2008) Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families. Neurogenetics 9 : 139 142.
6. Mikami M, Yasuda T, Terao A, Nakamura M, Ueno S, Tanabe H, Tanaka T, Onuma T, Goto Y, Kaneko S, Sano A 1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 65 : 745 751. (Pubitemid 30468719)
7. Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptacek LJ 1999) Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 53 : 1180 1183. (Pubitemid 29480072)
8. van Rootselaar AF, van Schaik IN, van den Maagdenberg AMJM, Koelman JHTM, Callenbach PM, Tijssen MA 2005) Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord 20 : 665 673. (Pubitemid 41051777)
9. van Rootselaar AF, van der Salm SM, Bour LJ, Edwards MJ, Brown P, Aronica E, Rozemuller-Kwakkel JM, Koehler PJ, Koelman JH, Rothwell JC, Tijssen MA 2007) Decreased cortical inhibition and yet cerebellar pathology in "familial cortical myoclonic tremor with epilepsy Mov Disord 22 : 2378 2385.
10. Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP 2004) A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia 45 : 190 192. (Pubitemid 38174127)
11. Striano P, Zara F, Striano S 2005) Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype (Review). Acta Neurol Scand 111 : 211 217. (Pubitemid 40380454)