Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.
This is a case report of a patient with confirmed myotonic dystrophy type 1 and spinocerebellar ataxia type 6. The coexistence of two trinucleotide repeat expansions in this family illustrates the importance of continued and vigilant diagnostic inquiry when a patient with a confirmed genetic abnormality has an atypical presentation. The coincidence of two trinucleotide repeat expansions in this patient may suggest an underlying error in DNA metabolism.
Kolb
Stephen J
SJ
Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA. Stephen.Kolb@osumc.edu
Kissel
John T
JT
D000328:Adult; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases