Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 9, 2009, Pages 1029-1035

  Spaans, F ^a   Faber, C G ^a   Smeets, H J M ^b   Hofman, P A M ^a   Braida, C ^c   Monckton, D G ^c   De Die Smulders, C E M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CONFUSION; CONSCIOUSNESS DISORDER; CONTROLLED STUDY; DISEASE SEVERITY; DYSPHASIA; FEMALE; FEVER; FOLLOW UP; GENE MUTATION; HEADACHE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MYOTONIC DYSTROPHY; NAUSEA; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RESTLESSNESS; SENSORIMOTOR NEUROPATHY; SENSORY DYSFUNCTION; SEX DIFFERENCE; WEAKNESS; AGED; CASE REPORT; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; GENETICS; HEARING LOSS; MIDDLE AGED; NERVE CONDUCTION; PEDIGREE; PHYSIOLOGY; PURE TONE AUDIOMETRY; RECURRENT DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

DNA;

ADULT; AGED; AGED, 80 AND OVER; AUDIOMETRY, PURE-TONE; BLOTTING, SOUTHERN; BRAIN DISEASES; CHARCOT-MARIE-TOOTH DISEASE; DNA; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; NEURAL CONDUCTION; PEDIGREE; RECURRENCE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 69449093578     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.170126     Document Type: Article

References (37)

1. Harper PS. Myotonic dystrophy, 3rd Edn. London: WB Saunders, 2001.
2. Whitehead AS, Solomon E, Chambers S, et al. Assignment of the structural gene for the third component of human complement to chromosome 19. Proc Natl Acad Sci USA 1982;79:5021-5025
3. Spaans F, Jennekens FGI, Mirandolle JF, et al. Myotonic dystrophy associated with hereditary motor and sensory neuropathy. Brain 1986;109:1149-1168 (Pubitemid 17212983)
4. Brunner HG, Spaans F, Smeets HJM, et al. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology 1991;41:80-84
5. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993;328:471-475 (Pubitemid 23056437)
6. Monckton DG, Wong LJ, Ashizawa T, et al. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995;4:1-8.
7. Warner JP, Barron LH, Goudie D, et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996;33:1022-1026 (Pubitemid 27023403)
8. Slater H, Bruno D, Ren H, et al. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat 2004;24:164-171 (Pubitemid 39006596)
9. Baas F. Genetic diagnosis of Charcot-Marie-Tooth disease. Methods Mol Biol 2003;217:77-84.
10. Kors EE, Melberg A, Vanmolkot KR, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology 2005;63:1136-1137 (Pubitemid 39287940)
11. + pump a2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003;33:192-196
12. Obernstein SAJ, Ferrari MD, Bakker E, et al. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Neurology 1999;52:1913-1915 (Pubitemid 29260913)
13. Francke U. Digitized and differentially shaded human chromosome ideograms for genetic applications. Cytogenet Cell Genet 1994;65:206-218 (Pubitemid 2000379)
14. Lichter P, Cremer T, Borden J, et al. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridisation using recombinant DNA libraries. Hum Genet 1988;80:224-234 (Pubitemid 18272467)
15. Silberstein M, Tzemach A, Dovgolevsky N, et al. Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 2006;78:922-935 (Pubitemid 43787685)
16. Franssen H, Vermeulen M, Jennekens FGI. Chronic inflammatory neuropathies. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders, 2nd Edn. Philadelphia: FA Davis, 1998:53-59
17. Verhoeven K, Villanova M, Rossi A, et al. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Genet 2001;69:889-894 (Pubitemid 32868534)
18. Senderek J, Hermanns B, Bergmann C, et al. X-linked dominant Charcot-Marie- Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations. J Neurol Sci 1999;167:90-101. (Pubitemid 29393095)
19. Di Constanzo A, Di Salle F, Santoro L, et al. Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J Neurol 2002;249:1175-1182 (Pubitemid 35025090)
20. Pietrini V, Terzano MG, D'Andrea G, et al. Acute confusional migraine: clinical and electroencephalographic aspects. Cephalalgia 1987;7:29-37.
21. Neinstein L, Milgrom E. Trauma-triggered migraine and acute confusional migraine. J Adolesc Health 2000;27:119-124
22. Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998;44:731-739 (Pubitemid 28516043)
23. Schon F, Martin RJ, Prevett M, et al. "CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry 2003;74:249-252
24. O'Sullivan M, Jarosz JM, Martin RJ, et al. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001;56:628-634 (Pubitemid 32209997)
25. Thomsen LL, Eriksen MK, Roemer SF, et al. A population-based study of familial hemiplegic migraine suggests revised diagnostic criteria. Brain 2002;125:1379-1391
26. Marchioni E, Galimberti CA, Soragna D, et al. Familial hemiplegic migraine versus migraine with prolonged aura: An uncertain diagnosis in a family report. Neurology 1995;45:33-37
27. Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001;345:7-24. (Pubitemid 32634267)
28. Reith J, Jorgensen HS, Pedersen PM, et al. Body temperature in acute stroke: relation to stroke severity, infarct size, mortality, and outcome. Lancet 1996;347:422-425 (Pubitemid 26054066)
29. Geffroy A, Bronchard R, Merckx P, et al. Severe head injury in adults: which patients are at risk of early hyperthermia? Intensive Care Med 2004;30:785-790
30. Semel JD. Complex partial status epilepticus presenting as fever of unknown origin. Arch Intern Med 1987;147:1571-1572
31. Chan KM. Epilepsy - another cause of intermittent fever with confusion. Postgrad Med J 1992;68:119-120
32. Sharbrough FW. Nonspecific abnormal EEG patterns. In: Niedermeyer E, Lopes da Silva F, eds. Electroencephalography. Basic principles, clinical applications, and related fields, 4th Edn. Baltimore: Williams & Wilkins, 1999:215-234
33. Huygen PLM, Verhagen WIM, Noten JFP. Auditory abnormalities, including 'precocious presbyacusis' in myotonic dystrophy. Audiology 1994;33:73-84.
34. Wojciechowska M, Bacolla A, Larson JE, et al. The myotonic dystrophy type1 triplet repeat sequence induces gross deletions and inversions. J Biol Chem 2005;280:941-952
35. de Graaf E, Rouillard P, Willems PJ, et al. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet 1995;4:45-49
36. Shy ME, Jáni A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-384
37. Züchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005;37:289-294 (Pubitemid 41716256)