Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy

Neurology

Volumn 53, Issue 5, 1999, Pages 1042-1050

  Meola, Giovanni ^b   Sansone, V ^c   Perani, D ^c   Colleluori, A ^c   Cappa, S ^a   Cotelli, M ^a   Fazio, F ^c   Thornton, C A ^c   Moxley, R T ^c  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c NONE

Author keywords

MRI; Myotonic dystrophy; Neuropsychological tests; PET; Proximal myotonic myopathy

Indexed keywords

DEUTERIUM OXIDE; OXYGEN 15;

ADULT; AGED; ARTICLE; BRAIN BLOOD FLOW; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRONTAL CORTEX; HUMAN; MALE; MYOPATHY; MYOTONIC DYSTROPHY; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECALL; SPATIAL MEMORY; VISUAL MEMORY; WHITE MATTER;

EID: 0033595470     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.5.1042     Document Type: Article

References (34)

1. Thornton CA, Griggs RC, Moxley RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35: 269-272.
2. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
3. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
4. Meola G, Sansone V, Radice S, et al. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 1996;6:143-150.
5. Moxley RT. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromuscul Disord 1996;6:87-93.
6. Moxley RT, Udd B, Ricker K, et al. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes - workshop report. Neuromuscul Disord 1998;8:508-518.
7. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss, and hypogonadism - heterogeneity of proximal myotonic disorders. Neuromuscul Disord 1997;7:217-228.
8. Phillips MF, Rogers MT, Barnetson R, et al. PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. Neuromuscul Disord 1998;8:439-446.
9. Harper PS. Myotonic dystrophy. 2nd ed. London: WB Saunders, 1989.
10. Hund E, Jansen O, Koch MC, et al. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 1997;48:33-37.
11. Ruchous MM, Guerouaou D, Vandenhaute B, et al. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 1995;89:500-512.
12. Delaporte C. Personality patterns in patients with myotonic dystrophy. Arch Neurol 1998;55:635-640.
13. Huber SJ, Kissel JT, Shuttleworth EC, et al. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 1989;46:536-540.
14. Damian MS, Schilling G, Bachmann G, Simon C, Stoppler S, Dorndorf W. White matter lesions and cognitive deficits: relevance of lesion pattern? Acta Neurol Scand 1994;90:430-436.
15. Abe K, Fujimura H, Toyooka K, et al. Involvement of the central nervous system in myotonic dystrophy. J Neurol Sci 1994;127:179-185.
16. Miaux Y, Chiras J, Eymard B, et al. Cranial MRI findings in myotonic dystrophy. Neuroradiology 1997;39:166-170.
17. Chang L, Ernst T, Osborn D, Seltzer W, Leonido-Yee M, Poland RE. Proton spectroscopy in myotonic dystrophy. Correlations with CTG repeats. Arch Neurol 1998;55:305-311.
18. Ogata A, Terae S, Fujita M, Tashiro K. Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study. Neuroradiology 1998;40:411-415.
19. Vermersch P, Sergeant N, Ruchoux MM, et al. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 1996;47:711-717.
20. Ono S, Takahashi K, Jinnai K, et al. Loss of catecholaminergic neurons in the medullary reticular formation in myotonic dystrophy. Neurology 1998;51:1121-1124.
21. Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
22. Ricker K, Grimm T, Koch MC, et al. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 1999;52: 170-171.
23. Mariani C, Farina E, Cappa SF, et al. Neuropsychological assessment in multiple sclerosis: a follow-up study with magnetic resonance imaging. J Neurol 1991;238:395-400.
24. Lezak MD. Neuropsychological assessment. 3rd ed. New York: Oxford University Press, 1995.
25. Friston KJ, Holmes AP, Worsley KJ, Poline JP, Frith CD, Frackowiak RSJ. Statistical parametric maps in functional imaging: a general linear approach. Hum Brain Mapp 1995;2: 189-210.
26. Talairach J, Tournoux P. Coplanar stereotactic atlas of the human brain. Dimensional proportional system: an approach to cerebral imaging. Stuttgart: Thieme, 1988.
27. 18F]FDG PET: A clinical validation of statistical parametric mapping. Neuroimage 1999;9:63-80.
28. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th ed. Washington, DC: American Psychiatric Association, 1994.
29. Thornton CA, Ashizawa T. Getting a grip on the myotonic dystrophies. Neurology 1999;52:12-13.
30. Kupferman I. Localization of higher cognitive and affective functions: the association cortices. In: Kandel ER, Schwartz JH, Jessel TM, eds. Principles of neural science. 3rd ed. New York: Elsevier Publishers, 1991:823-838.
31. Stuss DT, Benson DF. The frontal lobes. New York: Raven Press, 1986.
32. Fiorelli M, Duboc D, Mazoyer BM, et al. Decreased cerebral glucose utilization in myotonic dystrophy. Neurology 1992;42: 91-94.
33. Annane D, Fiorelli M, Mazoyer B, et al. Impaired cerebral glucose metabolism in myotonic dystrophy: a triplet-size dependent phenomenon. Neuromuscul Disord 1998;8: 39-45.
34. Moxley RT, Sansone V, Lifton A, Thornton CA. Insulin resistance in proximal myotonic myopathy (PROMM). Neurology 1997;48(suppl 3):A229. Abstract.