Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

Epilepsia

Volumn 46, Issue 8, 2005, Pages 1256-1263

  Al Asmi, Abdullah ^a,e   Jansen, An C ^a   Badhwar, AmanPreet ^a   Dubeau, François ^a   Tampieri, Donatella ^a   Shustik, Chaim ^b   Mercho, Suha ^a   Savard, Ghislaine ^a   Dobson Stone, Carol ^c   Monaco, Anthony P ^c   Andermann, Frederick ^a   Andermann, Eva ^a,d  

^a MCGILL UNIVERSITY   (Canada)

^b ROYAL VICTORIA HOSPITAL   (Canada)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d MCGILL UNIVERSITY   (Canada)

^e SULTAN QABOOS UNIVERSITY   (Oman)

Author keywords

Chorea acanthocytosis; Familial temporal lobe epilepsy; Movement disorders

Indexed keywords

ANTICONVULSIVE AGENT; BENZATROPINE; CARBAMAZEPINE; CLOBAZAM; GABAPENTIN; HALOPERIDOL; LAMOTRIGINE; LORAZEPAM; PHENOBARBITAL; PHENYTOIN; QUETIAPINE; RISPERIDONE; TOPIRAMATE; VALPROIC ACID;

ACANTHOCYTOSIS; ADULT; AMYGDALOID NUCLEUS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SMEAR; BRAIN SIZE; CHOREA; CHROMOSOME 9Q; CHROMOSOME MUTATION; CLINICAL ARTICLE; CLINICAL FEATURE; DROWSINESS; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FEMALE; HIPPOCAMPUS; HUMAN; HYPERTROPHY; MALE; MEMORY DISORDER; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; RASH; SIDE EFFECT; TEMPORAL LOBE EPILEPSY; WEIGHT GAIN; CASE REPORT; COMPARATIVE STUDY; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; PROGNOSIS; VIDEORECORDING;

ADULT; AMYGDALA; ANTICONVULSANTS; CHOREATIC DISORDERS; ELECTROENCEPHALOGRAPHY; EPILEPSY, TEMPORAL LOBE; FAMILY HEALTH; FEMALE; HIPPOCAMPUS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PROGNOSIS; VIDEOTAPE RECORDING;

EID: 23944446139     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2005.65804.x     Document Type: Article

References (45)

1. Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001;248:87-94.
2. Rampoldi L, Danek A, Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002;80:475-91.
3. Critchley EM, Clark DB, Wikler A. An adult form of acanthocytosis. Trans Am Neurol Assoc 1967;92:132-7.
4. Critchley EM, Clark DB, Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 1968;18:134-40.
5. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis: a new syndrome. Arch Neurol 1968;19:403-9.
6. Critchley EM, Nicholson JT, Betts JJ, et al. Acanthocytosis, normolipoproteinaemia and multiple tics. Postgrad Med J 1970;46:698-701.
7. Aminoff MJ. Acanthocytosis and neurological disease. Brain 1972;95:749-60.
8. Sotaniemi KA. Chorea-acanthocytosis. Neurological disease with acanthocytosis. Acta Neurol Scand 1983;68:53-6.
9. Gross KB, Skrivanek JA, Carlson KC, et al. Familial amyotrophic chorea with acanthocytosis: new clinical and laboratory investigations. Arch Neurol 1985;42:753-6.
10. Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis: a clinical, haematological and pathological study of 19 cases. Brain 1991;114:13-49.
11. Rampoldi L, Dobson-Stone C, Rubio JP, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001;28:119-20.
12. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 2001;28:121-2.
13. Saiki S, Sakai K, Kitagawa Y, et al. Mutation in the ChAc gene in a family of autosomal dominant chorea-acanthocytosis. Neurology 2003;61:1614-6.
14. Aasly J, Skandsen T, Ro M. Neuroacanthocytosis: the variability of presenting symptoms in two siblings. Acta Neurol Scand 1999;100:322-5.
15. Meierkord H, Shorvon S. Epilepsy in neuroacanthocytosis. Nervenarzt 1990-61:692-4.
16. Bohlega S, Al-Jishi A, Dobson-Stone C, et al. Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord 2003;18:403-7.
17. Kazis A, Kimiskidis V, Georgiadis G, et al. Neuroacanthocytosis presenting with epilepsy. J Neurol 1995;242:415-7.
18. Spencer SE, Walker FO, Moore SA. Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. Neurology 1987;37:645-9.
19. Vance JM, Pericak-Vance MA, Bowman MH, et al. Chorea-acanthocytosis: a report of three new families and implications for genetic counselling. Am J Med Genet 1987;28:403-10.
20. Wyszynski B, Merriam A, Medalia A, et al. Choreoacanthocytosis: report of a case with psychiatric features. Neuropsychiatry Neuropsychol Behav Neurol 1989;2:137-44.
21. Jacome D. Movement disorder induced by carbamazepine. Neurology 1981;31:1059-60.
22. Kurlan R, Kersun J, Behr J, et al. Carbamazepine-induced tics. Clin Neuropharmacol 1989;12:298-302.
23. Montenegro MA, Scotoni AE, Cendes F. Dyskinesia induced by phenytoin. Arq Neuropsiquiatr 1999;57:356-60.
24. Robertson PL, Garofalo EA, Silverstein FS, et al. Carbamazepine-induced tics. Epilepsia 1993;34:965-8.
25. Sotero de Menezes MA, Rho JM, Murphy P, et al. Lamotrigine-induced tic disorder: report of five pediatric cases. Epilepsia 2000-41:862-7.
26. Vadlamudi L, Scheffer IE, Berkovic SE. Genetics of temporal lobe epilepsy. J Neurol Neurosurg Psychiatry 2003;74:1359-61.
27. Berkovic SE, Howell RA, Hopper JL. Familial temporal lobe epilepsy: a new syndrome with adolescent/adult onset and a benign course. In: Wolf P, ed. Epileptic seizures and syndromes. London: John Libbey, 1994:257-63.
28. Berkovic SE, McIntosh A, Howell RA, et al. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996;40:227-35.
29. Cendes F, Lopes-Cendes I, Andermann E, et al. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998;50:554-7.
30. Kobayashi E, Lopes-Cendes I, Guerreiro CA, et al. Seizure outcome and hippocampal atrophy in familial mesial temporal lobe epilepsy. Neurology 2001;56:166-72.
31. Claes L, Audenaert D, Deprez L, et al. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004;41:710-4.
32. Andermann E. Multifactorial inheritance of generalized and focal epilepsies. In: Anderson VE, Hauser WA, Penry JK, et al., eds. Genetic basis of the epilepsies. New York: Raven Press, 1982:355-74.
33. Kobayashi E, Li LM, Lopes-Cendes I, et al. Magnetic resonance imaging evidence of hippocampal sclerosis in asymptomatic, first-degree relatives of patients with familial mesial temporal lobe epilepsy. Arch Neurol 2002;59:1891-4.
34. Kobayashi E, Santos NF, Torres FR, et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch Neurol 2003;60:1546-51.
35. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-4l.
36. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002;11:1119-28.
37. Berkovic SF, Izzillo P, McMahon JM, et al. LGIl mutations in temporal lobe epilepsies. Neurology 2004;62:1115-9.
38. Ottman R, Winawer MR, Kalachikov S, et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004;62:1120-6.
39. Iwata M, Fuse S, Sakuta M, et al. Neuropathological study of chorea-acanthocytosis. Jpn J Med 1984;23:118-22.
40. Malandrini A, Fabrizi GM, Palmeri S, et al. Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report: a contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol (Berl) 1993;86:651-8.
41. Vital A, Bouillot S, Burbaud P, et al. Chorea-acanthocytosis: neuropathology of brain and peripheral nerve, clin Neuropathol 2002;21:77-81.
42. Burbaud P, Vital A, Rougier A, et al. Minimal tissue damage after stimulation of the motor thalamus in acase of chorea-acanthocytosis. Neurology 2002;59:1982-4.
43. Andermann F. Pseudotemporal vs neocortical temporal epilepsy: things aren't always where they seem to be. Neurology 2003;61:732-3.
44. Ledbetter DH, Ledbetter SA, vanTuinen P, et al. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proc Natl Acad Sci USA 1989;86:5136-40.
45. Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease: a contiguous gene syndrome. Nat Genet 1994;8:328-32.