The clinical and genetic correlates of MRI findings in myotonic dystrophy |
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Authors: | G Bachmann M S Damian M Koch G Schilling B Fach S Stöppler |
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Institution: | Neuromuscular and Genetic Research Group, Department of Radiology, Justus Liebig University, Klinikstrasse 36, D-35392 Gie?en, Germany, DE Department of Neurology, University of Gie?en, Gie?en, Germany, DE Department of Human Genetics, University of Marburg, Marburg, Germany, DE Department of Psychiatry, University of Gie?en, Gie?en, Germany, DE
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Abstract: | Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been
recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and
extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood
cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted
of diffuse atrophy (68 %), subcortical white matter lesions (65 %), wide Virchow-Robin spaces (38 %) and thickening of the
skull (35 %). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration
of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring
muscles causing a mosaic pattern of the thigh in 38 % and the calf in 44 %. Muscular changes on MRI were strongly correlated
with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology
in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits.
Received: 12 April 1995 Accepted: 25 August 1995 |
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Keywords: | Myotonic dystrophy Magnetic resonance imaging Brain Muscles Genetics |
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