Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia

Stephen J Kolb; John T Kissel

doi:10.1097/CND.0b013e318182105f

Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia

J Clin Neuromuscul Dis. 2008 Sep;10(1):22-3. doi: 10.1097/CND.0b013e318182105f.

Authors

Stephen J Kolb¹, John T Kissel

Affiliation

¹ Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA. Stephen.Kolb@osumc.edu

PMID: 18772697
DOI: 10.1097/CND.0b013e318182105f

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Humans
Male
Myotonic Dystrophy / complications
Myotonic Dystrophy / genetics*
Myotonin-Protein Kinase
Protein Serine-Threonine Kinases / genetics*
Spinocerebellar Ataxias / complications
Spinocerebellar Ataxias / genetics*
Trinucleotide Repeat Expansion / genetics*

Substances

DMPK protein, human
Myotonin-Protein Kinase
Protein Serine-Threonine Kinases